MTHFR Mutation, Symptoms and Diet: What You Need to Know

MTHFR mutation, symptoms and diet: What you need to know

[Last Updated 6th August, 2017]

All humans have the same set of genes.

Our differences come from the tiny variations in those genes.

Those variations influence not only in how you look or behave different to others… But in how your body reacts differently to external factors.

Especially how it reacts to the foods you eat and lifestyle you live.

For example, some have great difficulty metabolising caffeine. For others, it could be alcohol (1, 2).

Some have issues that increases their risk of Alzheimer’s disease, known as APOE4.

This is because we all have certain genetic variations or “defects” that can influence how we metabolise and use certain nutrients.

One of the more common and potentially dangerous variations is known as an MTHFR mutation.

This gene variation can impact how well your body metabolises folate and folic acid. Both are forms of vitamin B9, required for numerous critical bodily functions.

Unfortunately, a fault in this metabolic cycle is linked to many serious health problems (3).

This article describes the MTHFR mutation and explores what implications it may have for your health and diet.

What is MTHFR, the MTHFR gene, and MTHFR mutation?

MTHFR, short for Methylenetetrahydrofolate Reductase, is a very important enzyme in the body.

It’s necessary for Methylation to occur, a metabolic process that switches genes on and off, repairs DNA and many other important things.

Methylation is also essential to convert both folate and folic acid – each a form of Vitamin B9 – into its active, usable form called 5-MTHF.

This is a diagram of how complex it is, but you only need to see the final step.

folic-acid-metabolism

All the steps required to convert folate and folic acid into their active form, 5-MTHF

(Source: Image adapted from MTHFR Support Aus.)

You can see that the final (bottom) step requires MTHFR in order to create the active form.

So without the enzyme activity of MTHFR, methylation of folate and folic acid cannot occur properly.

For a more detailed yet easy to follow explanation of this process, see Methylation for Dummies.

MTHFR gene

Put simply, the MTHFR gene triggers the production of MTHFR enzymes.

Think of the gene as the flower, the enzyme as the honey-bee, and active folic acid as honey.

Without flowers, there will be no honey-bees. Without honey-bees, no honey is created.

MTHFR mutation

MTHFR mutationRoughly 30-50% of us carry a mutation in the MTHFR gene, passed down from our parents.

The two main functional mutations (also known as polymorphisms) of the gene are MTHFR C677T and MTHFR A1298C (3).

Specifics aside, these genetic mutations are collectively known as MTHFR mutations. They can be like a “defect” which limits production of your MTHFR enzymes.

Most people with a mutation remain unaffected and do not experience symptoms.

However, for some, enzyme efficiency can drop down to between 30-70% depending on the variant of mutation (4).

Note that there are numerous genetic mutations that can potentially hinder methylation. An MTHFR mutation is just one of many, but it’s the most well-researched and likely most important.

Summary: MTHFR is an enzyme necessary for an important metabolic process called methylation. It is this process that converts folate and folic acid into an active form the body can use. The MTHFR gene produces this enzyme, but a genetic mutation can inhibit its function.

MTHFR mutation may increase the risk of cardiovascular disease and vitamin B deficiencies

MTHFR mutation may increase the risk of cardiovascular disease and vitamin B deficienciesThose with an MTHFR mutation are at risk for poor MTHFR enzyme efficiency.

Consequently, folate and folic acid cannot be efficiently converted into their active form, known as 5-MTHF or L-methylfolate. Therefore those nutrients can’t perform one of their key functions: breaking down (recycling) Homocysteine.

Homocysteine is an amino acid thought to damage the lining of your arteries and other cells of the body. It is naturally formed in the body, but gets broken down (recycled) by 5-MTHF.

Elevated homocysteine levels in the blood is an independent risk factor for heart disease, stroke and other forms of cardiovascular disease (5, 6, 7).

It has also been linked with a wide range of other health problems including macular degeneration, Alzheimer’s disease, hearing loss, and cancer.

A lack of active folic acid (alongside a low folate diet) can also lead to a Folate Deficiency, which has major health implications on its own.

Therefore, those with a “bad” MTHFR mutation are at an increased risk for health problems if the issue is not addressed and their diet is not rich in folate.

MTHFR ebook ipad

Summary: Those with an MTHFR mutation may be predisposed to increased levels of homocysteine, a strong risk factor for cardiovascular disease. They are also more likely to develop a folate deficiency if their diet is not rich in folate.

What about other disease states and disabilities, like cancer and hypothyroidism?

MTHFR and anxiety and depressionConsidering that genes are influenced by our diet and environment, many studies are also able to find a link between MTHFR and a particular disease process or disability.

This ranges from cancer risk to autoimmune diseases and more; however it’s difficult to pinpoint an MTHFR mutation alone as a direct risk factor.

There is a dubious compilation of the research here, but the studies are far from conclusive and not all the research is listed.

Take thyroid hormone, for example, which appears to help regulate conversion of vitamin B2 (17). Vitamin B2 is crucial in the methylation of folate (more on that below), so we can make the assumption that those with hypothyroidism (an under active thyroid) and an MTHFR mutation are high risk. It could be true, yes, but it’s still just a theory.

The reality is that overall evidence for these health claims are hypothetical, and MTHFR mutations are unlikely to be a direct causal factor. Innocent until proven guilty.

What should I eat with an MTHFR mutation?

Get your free guide here:

Or click here to download the guide.

Summary: MTHFR could very well contribute to or exacerbate heart disease and folate deficiency, but this is due to excessive homocysteine. The mutation itself is unlikely to be a direct cause of certain disease states or disabilities.

MTHFR symptoms of a problem

MTHFR symptoms of a problemIf you believe you may have an MTHFR issue, there is no way to know for sure without getting tested (more on that below).

In saying that, there are some trending “MTHFR symptoms” among those with a defect that warrant an MTHFR test:

  • High homocysteine levels: Caused by poor methylation. Those with potentially “severe” mutations should check homocysteine with their doctor.
  • Folate deficiency: A deficiency in folic acid (folate) could be linked to MTHFR and is worth checking out. Common symptoms include extreme fatigue, light-headedness, and forgetfulness.
  • Had a miscarriage: Many alternative practitioners recommend testing for MTHFR mutations if you have had one or more miscarriages.
  • Longstanding gastrointestinal issues: Such as irritable bowel syndrome, but this is just a theory.
  • An autoimmune disease: Such as fibromylagia, although this is based more on anecdotes than solid science.
  • Long history of anxiety or depression: Based more on anecdotes than solid science.

It’s important to note that an MTHFR mutation itself is not inherently dangerous… but any form of genetic variance has the possibility to affect your health.

Knowing what the gene is and how it could affect you is seen by many as beneficial.

Summary: There are some common trends among those who have an MTHFR mutation. If you experience any “MTHFR symptoms” it could be worthwhile getting tested.

Folic acid is a problem, L-Methylfolate (5-MTHF) is an alternative

Folic acid is a problem, 5-MTHF is a solutionFolic acid is the conventional supplement for treating B-vitamin deficiency, lowering homocysteine levels, and reducing the incidence of Neural Tube Defects (8, 9).

It is so effective that the addition (fortification) of folic acid back into to wheat flour is now mandatory in Australia, USA, Canada and several other countries (10).

This is a big problem for people who don’t metabolise folic acid well, whether from low MTHFR activity or another enzyme issue (11).

It becomes an even bigger problem when you consider the recommended daily intake for folic acid is 400 μg, yet unmetabolised folic acid already appears in the blood when we consume just 200 μg per day (12).

Unetabolised folic acid accumulating in the blood can potentially mask dangerous vitamin B deficiencies such as megaloblastic anaemia. However, claims it has other harmful effects are unproven.

Fortunately there is an alternative

Aside from cutting your intake of fortified wheat flour (commercial bread), folic acid supplements can be replaced with the active form: 5-MTHF or L-Methylfolate.

It bypasses any MTHFR defects, and is shown to be equally (if not more) effective at increasing plasma folate levels and reducing homocysteine concentrations (13, 14).

5-MTHF is also better absorbed and interacts with fewer medications than folic acid (15).

So far the FDA and European Food Standards Agency have approved several products containing 5-MTHF. Some speculate it will soon replace folic acid as the protocol treatment (16).

There are some important factors to consider before taking 5-MTHF though.  Namely your vitamin B12 levels (and a particular variation of vitamin B12) and risk of anxiety, bipolar or depression.

This is why guidance from a Dietitian or practitioner that specialises in this area is so important. I strongly recommend you read this guide before going further.

That said, if you choose to supplement I recommend this L-methylfolate (5-MTHF) supplement (disclosure: affiliate link). It contains 800 mcg of biologically active folate (5-MTHF) plus 1 mg of vitamin B12 (a necessary coenzyme).

It’s also gluten, dairy and soy-free for those concerned, but always check with your doctor before taking any new supplements.

Summary: Folic acid can be very problematic for some, particularly those with an MTHFR mutation. Those people should avoid fortified wheat flour and look to swapping regular folic acid supplements for 5-MTHF.

Folic acid, MTHFR and pregnancy

Folic acid, MTHFR and pregnancy: What you need to knowActive folic acid is highly protective against Neural Tube Defects.

However, a conventional folic acid supplement is likely not protective of your child if it remains inactivated in your blood stream.

That’s why testing for and flagging an MTHFR mutation could be especially useful for women of childbearing age.

Therefore, a more conservative and thoughtful approach to folic acid supplementation is warranted for those with MTHFR issues.

If you are planning to have a child, or less than 13 weeks after conception, supplementing with L-methylfolate (5-MTHF) instead of folic acid is an option. The supplement I recommend is listed in the section above, but always consult with your doctor first.

While you’re at it, you should be avoiding these 6 foods too.

Summary: Women with an MTHFR mutation who are planning to have a child or already less than 13 weeks pregnant should be supplementing with 5-MTHF rather than folic acid.

MTHFR diet and nutrition recommendations

Diet and nutrition recommendationsThe importance of folate cannot be overstated.

That’s why MTHFR symptoms warrant such concern in the first place.

While more folic acid (often a synthetic vitamin B9 compound) is not desirable, more folate (natural vitamin B9 compounds) certainly is.

This is especially true for those with an MTHFR defect as folate-rich foods naturally contain the active form of folate too.

Additionally, more folate in the diet means more opportunities to create the active form. The more lottery tickets you buy, the more opportunities you have to win the lottery.

The body easily recycles leftover folate into a harmless compound, whereas it cannot always do so with folic acid. Without getting into more chemistry, that is why folic acid can easily accumulate in the blood.

According to NutritionData, the best sources of folate per 100 g serving are:

  • Beans and lentils (~50% RDI)
  • Raw spinach (49% RDI)
  • Asparagus (37% RDI)
  • Romaine (Cos) lettuce (34% RDI)
  • Broccoli (27% RDI)
  • Avocado (20% RDI)
  • Oranges/Mangoes (~10% RDI)

(RDI = Recommended Daily Intake)

Studies have even shown that a folate-rich diet can match the homocysteine-lowering effects of either a regular folic acid or 5-MTHF supplement (16).

As though we needed any additional reasons to eat more vegetables and legumes.

There are several other important nutrients to think about for folate metabolism. Namely vitamin B2 (Riboflavin) and vitamin B6 (Pyridoxine), which assist in the formation of 5-MTHF.

The best sources of vitamin B2 per 100 gram serving are:

  • Almonds (60% RDA)
  • Beef and lamb (51% RDA)
  • Oily fish (34% RDA)
  • Hard boiled eggs (30% RDA)
  • Mushrooms (29% RDA)
  • Spinach (14% RDA)
  • Natural yoghurt (~14% RDA)

The best sources of vitamin B6 per 100 gram serving are:

  • Sunflower seeds (67% RDA)
  • Pistachio nuts (56% RDA)
  • Oily fish (40-50% RDA)
  • Turkey, chicken, pork and beef (34-40% RDA)
  • Bananas (18% RDA)
  • Avocados (14% RDA)
  • Spinach (~12% RDA)

If you are deficient in either of these nutrients, part of the folate metabolism cycle will break down.

What foods to avoid?

It is commonly thought that antacids, some blood pressure medications, metformin (for type 2 diabetes), and contraceptives may all inhibit dietary absorption of B-vitamins to some extent.

If you regularly take any of these, it is best to seek personalised health advice from your Dietitian or doctor.

Want to download the diet recommendations?

Get your free guide here:

Or click here to download the guide.

Summary: Natural folate is a nutrient that we all need to eat more of… MTHFR defect or not. Vitamins B2 and B6 are also important given their role in folate metabolism.

MTHFR in the medical community

The medical community acknowledge the range of health issues linked with MTHFR mutations.

But as the current evidence is largely observational (cannot prove cause and effect), and in many cases inconsistent, their stance is:

“… there are very limited clinical indications for testing for the C677T and the A1298C polymorphisms in the MTHFR gene, and that testing is not indicated as a non-specific screening test in the asymptomatic general population.” 

I agree that it’s unnecessary to test if you do not experience any cluster of symptoms mentioned above. Particularly high homocysteine and/or chronic folate deficiency.

Additionally, genetic testing is expensive.

The alternative is to have your homocysteine levels checked at the doctor. Levels within the normal range indicate no issues with folate metabolism.

Summary: The medical community does not recommend testing for MTHFR mutations for the general population, especially those without symptoms. Testing homocysteine levels is a more affordable alternative.

How and where to get an MTHFR test

How and where to get tested for an MTHFR mutationIf you still want to test for it, you must do a genetic test.

Most service providers can mail the testing kit out to you, so it remains non-invasive and you don’t have to go anywhere. Simply send back a saliva swab and await your results.

The largest and most reliable companies are 23andMe and Ancestry.com, who have millions of customers. These companies provide you with a huge amount of raw data and details about your ancestry.

You can order your own kit from their websites or here through Amazon (disclosure: aff link).

Just note that due to new FDA regulations, no genetic testing companies are allowed to interpret medical information up front.

The good news is it’s simple to upload you 23andMe or Ancestry.com raw data to other websites for detailed reports.

GeneticGenie.org (free) can check for MTHFR mutations. I also recommend Promethease.com, which gives you super-detailed and interesting health reports for $5.

Just remember to take your results ‘with a pinch of salt’, as many of the health suggestions are based on early stage research. If you can afford it, use NSGC.org to find a genetic counselor that can help accurately interpret your results.

If instead you choose to use your own local lab, ensure they test for the MTHFR C677T and A1298C mutations, which are the main ones. Not all labs do so make sure you ask first.

The Bottom Line

Remember that genetic testing is only a tool to support you in better health.

Having a genetic mutation does not necessarily mean it will affect you. In fact, it most likely won’t according the current stats.

As they say, “Genes load the gun, environment pulls the trigger.”

Always consult with a Dietitian or practitioner who can put your results into context. And eat more folate-rich foods… That goes for everybody.

MTHFR ebook download

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More on MTHFR and other genetic variations

MTHFR mutation, symptoms and diet: What you need to know

Comments

  1. Thank you for this complete information. I was just tested a few months ago and have the MTHFR mutation. It explains decades of health and brain and apathy issues. Thank you. I am seeing a functional medicine practitioner to work with this too.

  2. Katherine Bragdon says:

    The problem is that those of us with a MTHFR mutation cannot process folate so it builds up in our bodies so eating a diet rich in folate makes it worse for us what we need is PROCESSED Folate which our bodies can use.

    • Yes those with a mutation cannot convert dietary folate to 5-MTHF as effectively as most. I assume that is what you mean by processed folate?

      But you can still convert some. So ensuring more dietary folate intake means maximising all opportunity for your body to convert to 5-MTHF. One could argue that you need folate more than others.

      It is illustrated in the first section.

      You are only at greater risk if you are consuming folic acid (not folate), as folic acid has an extra step in the metabolic process. It may not be converted to DHF. In this scenario it may mask some deficiencies and lead to other related problems.

      • I’d like to know where can I get non-enriched wheat flour and its products. I have difficulties finding ones for my daughters . They both have MTHFT heterozygous mutation . Thank you .

        • Many organic wheat products are unenriched. You have to read labels like a fiend and sometimes call the manufacturer to ask. I’ve found Rudy’s breads to be unenriched, as well as the organic 365 brand pasta at Whole Foods. Some things I’ve had to make myself, like biscuits and tortillas, using unenriched flour. Crackers are also difficult to find, but there are some out there.

        • Hi Nana, here is a possible suggestion: purchase organic grain (Red Mill comes to mind), and use a grain mill (Kitchen Aid has a grain mill attachment) and make your own flour and grain products.
          Hope this helps

        • Look for King Arthur flour. You can buy through their website or Amazon or Vitacost. Trish

    • I was prescribed methylated folate and B12 and I can feel the difference. I have always been quite anxious without any logical reason so I’m happy. I also take a methylated B group ( Tresos B by Eagle)

  3. Jennifer Turner says:

    I have a question not sure itf it’s related. I have several autoimmune issues. I was given methotrexate for a year with a dose of folic acid to take with it. The very first dose of folic acid caused me to break out with mouth ulcers and blisters . My doctor said I must be allergic and gave me leucovrin to replace my folic acid. Later I found out I have the mthfr c677t mutation plus some others . Is this related ?

    • Hi Jennifer
      The mouth ulcers is not related to MTHFR mutation, as far as I know.
      The conversion of Leucovrin to active folate (5-MTHF) still requires MTHFR enzyme. So in theory supplementing 5-MTHF would be much more beneficial for you than Leucovrin.
      You should ask your doctor about that.

      • I also had unpleasant reactions to folinic acid. It turns out that I have homozygous mutations of MTHFR C677T, DHFR, and MTHFS. The last one converts folinic acid (found in food and folinic acid supplements) to 5-MTHF. Folinic acid can build up just like folic acid and cause serious metabolic issues in applicable mutants. Bottom line, I take 5-MTHF and have to be careful not to eat too many folate-rich foods.

        • Angela, I don’t understand what all this means as my chiropractor just mentioned this to me today.. I’m trying to make sense of all these different terms. I suffer from neck pain and migraines. I probably won’t be back on this site but if you’re ok with email please email me when you get a chance. If you don’t want to that is fine too. Thanks,
          Mike
          Nebraska
          gohuskersunl@yahoo.com

      • Linda Harding says:

        Regarding mouth ulcers. I read recently that it can be a symptom of low riboflavin, which is associated with MTHFR.. Google MTHFR and riboflavin for details. Signs and symptoms of riboflavin deficiency:
        Angular cheilitis – cracks at the corners of the mouth
        Cracked lips
        Dry skin
        Inflammation of the lining of the mouth and tongue
        Mouth ulcers
        Red lips
        Sore throat
        Iron-deficiency anaemia
        Eyes may be sensitive to bright light, they may also be itchy, watery and/or bloodshot

    • colleen ferrari says:

      I read that you can’t take methotrexate if you have the MTHFR mutation. That’s in the paperwork my Dr gave me.

  4. Dieter H. Stern says:

    I have RA. My doctor has prescribed Methotrexate (6 X 2.5 MG per week). To offset some of the side effects I also take 1 MG Folic Acid daily. I would like to replace the Folic Acid with 5-MTHF plus 1 gram of Vitamin B12. How much 5-MTHF do I have to take to replace the 1 MG of daily Folic Acid?

  5. Ok so I’m a little confused. I also have the MTHFR mutation. What’s he difference between heterozygous and homozygous? Do they affect symptoms? Also as far as medication–is OTC Folic Acid sufficient? I was taking Folbee but insurance dropped it and it’s crazy expensive now. So would Folic Acid be enough and if so, how much would I need to take?
    I have had a massive pulmonary embolism, bilateral DVTs, Stroke, and miscarriage. My hematologist said he suspects there is an additional disorder that has not yet been discovered because MTHFR was the only abnormality that showed up and doc said MTHFR shouldn’t have cause THAT many problems.
    I have severe post thrombosis syndrome and I’m on Coumadin for life. Anyway thanks for your time! I’ve learned more about MTHFR thru this article. Thank you thank you!!!!

    • Hi Karla,

      Mutations of the gene tend to be MTHFR C677T.
      Heterozygous means 1 copy of C677T and homozygous is 2 copies of C677T. Which one are you?

      Basically symptoms and potential problems is greater for those with homozygous mutation. These people tend to get more problems with folic acid (eg Folbee), and benefit more from L-methyfolate (www.dietvsdisease.org/l-methylfolate-5-mthf/).

      It is likely a combination of many factors genetic and environmental, but MTHFR mutation is certainly linked to miscarriage and high homocysteine, which is a “marker” (it’s complicated) for cardiovascular disease such as stroke.

      Because of Coumadin you should limit your intake of dietary folate such as leafy greens (I explain about the differences in the L-methylfolate link above), your doctor would have advised this already?

      And that means folate supplementation is even more important for you. So you need to speak with your doctor about L-methylfolate rather than generic folic acid. Sooner the better.

      If you want more help you can email me hello@dietvsdisease.org

    • Christie K says:

      Have your Doctor run a Protein C level. I have both as do all my children.

      • anna marie says:

        I am homozygous for MTHFR – the cardiac version- What is Protein C level? Not familiar with that one.

        • C-Reactive Protein is one way to measure of inflammation in the body. Homocysteine is traditionally also a measure of inflammation that would be triggered by not being able to methylate the folic acid. These settle down after you receive the form of folate that is methylated and inflammation can settle down.

    • Check for heavy metals, take C3 curcumin to stop inflammation pathways.

    • Do you have factor 5?

    • Sounds like you have factor V leiden mutation I have it and the same history

    • Angela Viles-Shop says:

      OTC not sufficient but deplin has a program that’s 52.00 a month e an online pharmacy

  6. Shannon Smith says:

    Hi! I’m confused. Should I be eating natural/clean foods that contain natural folic acid or not?

  7. Melissa Brewer says:

    I have one of the mutations. What are the supplements I need to be taking and how much? I am currently just taking B Activ which is a B complex. I’ve struggled my entire live with anxiety, depression, poor circulation, OCD, and fatigue. I was glad to hear that there is something that might actually be causing it but what I’m taking recommended by my wellness nurse doesn’t seem to help.

    The B Activ has 20 mg of b6, 400 mcg of folate, 400 mcg of b12 . I’m taking two a day..

    Thank you so much for this site.

    • Well you don’t necessarily need supplements, it depends on what specific mutation you have?

      Does your supplement specify what kind of folate it is anywhere, like L-methylfolate or something?

      MTHFR may certainly be a contributor to those conditions, although it is always a combination of factors so you must also consider what other lifestyle habits you have that may contribute. Basically I don’t think the right supplementation will be a cure-all, but it can help 🙂

      The right dose really depends on what specific mutation you have btw.

    • Please email me. Tandimoyer@gmail.com. People are getting this all wrong. I was having heart palpations, crying, difficulty walking, I was extremely tired. Email me and I will tell you what to take and who to get it from and no I don’t work at the place that has the supplements. You can also go to 23andme.com and get tested for these genes. I have both of them! I went through a lot for the last 6 months especially!!! Your bodies aren’t able to detox so you are totally miserable

      • Please post it here.

        • Tandi, what works for you will not necessarily work for others who have the mutation. Everyone’s “expression” of the mutation is different, so please don’t encourage people to follow the same protocol you follow. Each person needs personalized advice for the specific factors that affect that person’s health.

  8. My son, now 25, was born with a problem in his left temporal lobe. It caused him petit mal problems when he was about 10. He was diagnosed with a benign tumour and was on medication to control epileptic seizures, although he never really suffered badly from them. At about 17 or 18 he took himself off medication as he felt it was not helping him with seizures and was hindering his study ability. I think he was right as he went on to get a first masters in marine engineering. However, he does not think he emotionally connects properly. He does not feel empathy and is quick tempered. He knows this and it leads to depression. He does not like medical intervention and so he won’t go for regular scans. At the last meeting his neurologist said he was certain that the lump in his left temporal lobe actually may be a fluid filled hollow, not a bunch on inert cells. This suddenly struck a cord with me, as a nutritional therapist, that he may have a MTHFR polymorphism. I believe this gene definitely effects neurotransmitter balance, but also controls the timing and development especially the symmetry of all out external and internal features and organs. Can you burn this?

    • Sorry written in haste above. “burn” should read confirm. My son said when he first learnt about his tumour that he would not let it effect his life. He’s very active kite surfing and board surfing. He loves socialising, but he doesn’t feel he forms good relationships with girllfriends and will suddenly end them abruptly. He has been living under the cloud of a cancer diagnosis, but I’m sure it is just an MTHFR polymorphism, but I haven’t persuaded him to get tested so far. He drinks too much like many young people. However alcohol destroys methyl groups will make his symptoms worse and possible lead to bad epigenetic changes ( cancer being one of them). He needs to stop drinking and avoid folic acid while increasing b12 and methyl folate intake. Any further comments please.

      • Hi Sam I am not sure about the neurological link, I mean in theory yes but it hasn’t been proven (or disproven) by any stretch.

        It could be his history of tumor or seizures that has impacted on part of his brain that affects these aspects of socialising. But I am not expert in this respect.

        He should do the MTHFR test so then you have something to work with.

    • Has he been tested for Autism/Asbergers Syndrome or ADHD? My son is high functioning on the spectrum. He goes to a peer integration social group at a Psychologist office. A couple of the teens have the dual diagnosis of Autism/ADHD and can act similar to the way you describe your son’s behavior–In the young men’s peer social group(age 21-26) there is a man with a traumatic brain injury. While chatting with him, he shared that he’s quick to anger and is apathetic. These groups are covered by most health insurance. They really are in a safe place to interact with like minded peers and; help these kids/young adults to broaden their horizons.

    • Robin Wenz says:

      Poor genetic variations seem to cause me lack of emotional feeling and compassion what I was very ill constantly depressed for many many years with all kinds of symptoms on and off. Little did I know it was genetic related. I was getting sicker and sicker until one day I was actually paralyzed for a whole night in bed. When the paralyzation started to disappear my mind was clear enough and I was able to get on the computer and start doing some research for my symptoms. One of the first things I came across was a forum that talked about Paleo dieting. That was the start of my recovery. I started to notice that I was able to feel more compassion loving and understanding feelings that I did not have before. It has been a long journey but I am still on still going through recovery but for the most part I am doing much better. I have had to pay for biohackers holistic doctors that made a huge difference over regular Physicians I’m getting the right supplements it’s usually important.

  9. Adam Nagelvoort says:

    Hi Joe, I appreciate this information. I was diagnosed yesterday with this mutation and it makes so much sense regarding my life long (50 years) struggle with mental illness and general health issues. I went searching for simple, clear information on this topic, and you provided it ‘without hype’ as you said. Thanks again.

  10. Hi Joe, I struggle with depression (bi polar 2) and I’m very low energy. I suspect my low energy (and maybe even my depression) may be caused by my body not making the best of its folate intake. I’ve done blood tests and my folate levels (as well as D, B12, Magnesium etc) have come back within the normal range. So my question is, is it possible that my body is not processing folate properly EVEN THOUGH my blood work is showing normal folate levels?

    It really sucks to be told that all the tests I do come back healthy and normal, because the way I feel isn’t healthy and normal.

    Looking forward to your thoughts,

    ~Mic

    • Hi Mic. I couldn’t help but “over hear” & would encourage you to check out EDS. It’s a mixed connective tissue disorder that is not autoimmune. There’s so many random conditions that they are actually finding genetic defects for. Very similar to the MTHFR mutation. You might be surprised at how you fit under that umbrella. Just an idea?

    • Hi Mic,

      Just to clarify, do you know if it was an RBC folate test you had? Or a folic acid test?

      Some folate tests are not good at determining long-term status, and folic acid is not a good indicator.

      Based on your description – and the mental health issues especially – it is possible you do not create active folate (5-MTHF). If you suspect this, I’d look at doing the MTHFR test. You can ask your doc or order it online.

      But also you need to be extra careful if you ever did supplement 5-MTHF, because bipolar is a big risk for manic episodes. Just a head’s up.

      But yeah let me know.

      • Hey Joe, thanks for your reply! The test I did was RBC Folate, Which came back “within the normal range”. Just to clarify, supplements could cause manic episodes? I’m at the point of running out of ideas as to why I’m so low energy/motivation.

        • The fact that it wasn’t high suggests you don’t have a build up of folic acid in the blood (and therefore not a “bad” mthfr mutation, if at all).

          But the only way to know is to do a test for it.

          L-methylfolate (5-mthf) supplements have been known to cause manic episodes in those with bipolar disorder because it can have a huge influence on mood, especially when you first start. See https://www.dietvsdisease.org/l-methylfolate-5-mthf/

          So that is something to be aware of which is why it is recommended to speak with your doctor.

          Then with their supervision, you could trial very low dose of 5-mthf first to see how you feel. Sorry I cannot be of more help Mic

          • Thanks so much for your time responding, I really do appreciate it.

          • Robin Wenz says:

            How do you help a person who can only eat one or two Foods? What would be your recommendation to the person on the best way to get help and what to do in the meantime while waiting for appointments and testing?

        • On a side note a lot of GPs say a B12 of over 190 is normal when in practice and in other countries the lower range is nearer 500. Low B12 can cause some mental health symptoms as well as fatigue.
          Hope you get your answers soon 😊

    • Get tested for Pyrolles as well as some of the deficiencies are very similar to MTHFR but I have read some very interesting thins about it in relation to bipolar.

    • You need to be tested for MTHFR gene mutation. Simple blood test or some do saliva. Also, get a Functional Methylation Panel done to see how your body is breaking down amino acids, B vitamins, etc. Look up Dr.Yasko, Dr.Benjamin Lynch, experts in this.

  11. This is very interesting reading all the comments & information regarding the MTHFR mutation. I am about to undergo genetic testing for Ehlers-Danlos Syndrome (EDS) as I have over 20 conditions & symptoms that fall under that umbrella. My cousin alerted me that she may have EDS & my sisters & my 3 daughters all have symptoms. I’ve been having weird test results for years, along with a host of random seemingly unrelated conditions. Upon reviewing a few Folate & Lipase test results, I see that they have been over the normal range (high). I’ve also had really high B12 results, which has somewhat stumped my GI Dr. because no one is looking for high, it’s usually a deficiency. These were in 2010 & 2014. The little bit I could find on high B12 aligned with my symptoms & I think is also related to this EDS. I’m thinking I should talk to the geneticist about this to see if testing for the MTHFR mutation would make sense. I certainly have GI issues, including: GERD, Hiatal Hernia, Congenital Esophageal Stricture, IBS & Peptic Ulcers, along with random abdominal pain. Can you tell me anything you know about high Folate and Lipase? Any info would be helpful. Thanks!

    • Hi Laura,

      Sorry I do not know much about EDS, but it is a very fascinating area of genetics.

      I only began learning about MTHFR at the beginning of 2015, but I do plan to do more writing in the future on other genetic conditions.

      Well high folate (above normal) can indicate MTHFR mutation, but it depends on the folate test. Folate RBC is much more accurate than folate serum. The reason being it may measure the high levels of folate remaining in the blood, which indicates it is not being converted to active folate (5-MTHF) and used in the methylation cycle.

      If you are seeing a geneticist, definitely ask them to do MTHFR test

    • Hi Laura,
      A lot of your symptoms can be attributed to EDS.
      Hopefully you’ll get a diagnosis with genetic testing but there is no genetic test for Hypermobility EDS. One of my daughters has H-EDS and another has “probably” got it according to a geneticist which means there’s a good chance I have too 😳
      My GP thinks I’m “very odd” as I have a number of seemingly unconnected conditions. I first started reading about the MTHFR gene when I was diagnosed with pernicious anaemia last year with a desperately low B12 level of 71.
      I haven’t been tested for MTHFR. Good luck with your diagnosis 😊

    • HEllo! I have MTHFR Gene Mutation, Fibromyalgia, Chronic Migraines, Interstichial Cystitis(sp?) and gut issues.( lower 1/3rd of esophagus stretched once a year)- My Gastroenterologist had me do three take home breath test to check for intolerances (Lactose, Glucose, Fructose) I’ll be darned if I I didn’t end up being Fructose Intolerant! By eliminating certain fruits and veggies, my stomach/GI tract feels so better. Bonus😉My waistline trimmed down! I had no idea I was so bloated. Even though my tests for Gluten intolerance and lactose intolerance came back fine, I have opted to eat Gluten Free, to limit milk consumption, and to use Lactaid and Cocunut Milk~ I feel the diet change has helped decrease the intensity/frequency of migraines, decrease my inflammation and improved my gut health. If I could just decrease my chronic pain and fatigue, that would be wonderful. Hope this helps!

  12. Hello, I’m a 37 year old woman. A gynecologist said I had MTHFR 7 years ago when I had an extremely premature baby at 24 weeks. They never said what type I had and I never followed up. One year ago I got very sick with extreme fatigue and chest pains, went to ER and ekg was fine, evrything was fine. Elevated blood pressure which I never had before. Went to dr and he prescribed 5mg lisinopril. Then went to cardiologist to do stress echo which came out fine just said my high blood pressure was caused by anxiety. I’m overweight so I tried to lose weight with no avail been overweight since age 3. So I don’t have chest pains now but I have irregular heart beats or palpitations, high blood pressure, my hair is falling out. I saw dermatologist last week and he did blood tests and says my iron level is very low and I’m anemic and I have low vitamin d too. My gyno said my homosystein is good and my thyroid is good. I wonder if all of this is related? I’m worried because I want to feel good again all my Drs refer me to someone else and back again. I don’t know what to do. I don’t know my MTHFR mutation.

    • Hi Polly,

      I think you first need to look at why was iron and vitamin D low, and elevated blood pressure. Is there some aspects in your lifestyle and/or diet you can change for the better?

      Have you found a healthier eating pattern that you can be consistent with?

      Homocysteine is good so I wouldn’t worry about MTHFR right now. It wouldn’t be causing any problem with iron or vit d.

      • Thank you for the reply. Am seeing pcp next week& actually follow up with cardiologist from last year.
        My questions to them are why high blood pressure ? Is it solely from being overweight / sedentary? Can a young person be that way from that only? Or is it usually in older people? Then ask about palpitations / irregular heart beats, extreme fatigue, hair loss. I wonder if there’s something else I may need to ask or know from him? I feel like if I don’t have all the questions the dr may miss something.
        I wonder if a thyroid can go undetected bc of my symptoms seem to read under active thyroid. Also wonder if MTHFR even if the homosystein is fine, if it can cause or is causing an illness or the illness experiencing? It’s been a year. It’s scary. I have to say from April to October I was well last year and off the meds for high blood pressure while I exercised and ate clean & healthy. As I came off the wagon my chest pains came back then I started the lisinopril again. Maybe lisinopril aggravating MTHFR?
        Any help is appreciated. Thanks so much.

        • Hey Polly! For years I was told my thyroid is “fine”, It always sat on the lower side of the normal range. My OB/GYN explained that many years ago they changed the parameters of the normal range. With the old parameters I would’ve been considered low thyroid. -Tried Synthroid which made me a emotional/ weepy-I now get a compounded T3 and T4 script and feel better. My Thyroid levels now come back on the mid to high side of normal-Outer 1/3rd of eyebrows grew back. My hairline improved as well. I still lose a little hair with every washing, but not nearly as much as I used to. ~ As for D3-I have to take double the recommended dosage of D3 to get in the “normal range”. Good luck!

    • Hi Polly,
      Low Vit D levels are sometimes due to chronic inflammation and/or infection in the body. Also a number of your symptoms are also symptoms of Lyme dz and other vector borne illnesses. Have you ever been (or considered) tested for those? Not that the testing is all that accurate – quite the opposite in fact. However if you have ever been exposed to ticks, fleas, biting flies, lice etc I would seriously consider finding yourself an LLMD for a thorough medical hx, physical exam and blood tests! Best wishes to you and I hope you feel better soon !!

      • Thank you for your answer. Have been bitten by flies anytime flies are out/mosquitoes. I live in Texas. Fleas last year also. So I’ll let my dr know about needing tests for that. This is all scary and nerve wrecking. I’m going to keep calm until I talk to Drs. Thanks so much.

      • Polly, if you have access to your lab reports, please check your Calcium and Vitamin D levels. If calcium is high and Vit. D is low, it’s almost certain you have a parathyroid tumor (almost always benign). I had your same symptoms, discovered the tumor, had a very simple surgery, and feel like a new person. It’s frequently overlooked by doctors!

  13. It does not appear that 23 and Me tests for the MTHFR mutation. They can only tell you carrier status (whether you have one copy of a gene in question; they won’t tell you if you have 2 or not.) MTHFR is not on the list of genes they test for.

    • Mrs Passerby says:

      yes they do, look more closely – also they provide raw data.

      • No they don’t. I just received my results and it is not part of the 23 and Me.

        • I did mine a few years ago and it was in the raw data I ran through a few external programs that analyze the raw data. Maybe they’ve changed it since then?

          • Gina Rogers says:

            I used livewello.com. It allowed me to import my “raw data” (that came with the 23andme test results) and it turned it into a complete list of all the genes and indicated whether or not I had a mutation. Hope that helps!

        • You can upload the raw dna data from 23 & Me OR Ancestry.com to codegen.eu Its an anonymous site that doesn’t store your data. You can print a number of charts, look at a dashboard that has the 10 most significant genotypes, you can sort by the risk level, and much more. It’s totally free. When you exit the site the data is gone. These autosomal dna tests most definitely contain MTHFR genotypes. And codegen.eu provides substantive details about each genotype.

  14. I’m concerned that as a midwife I’m prescribing Folic Acid for all pregnant women in the first trimester of pregnancy without knowing their MTHFR status.
    I’ve recently had a client that is homozygous MTHFR and her specialist has prescribed Folic Acid 10mgs daily. I urged her to do a little more research into it and to try and obtain some Methylfolate instead but she preferred not to take any supplement and just try and consume more dietary folate.
    What issues are high doses of Folic Acid likely to cause in a pregnant woman with the MTHFR gene?

    • The potential issue for homozygous is that the folic acid remains unmetabolized instead of converted into l-methylfolate. So then that extra folic acid “insurance” is not there, which is the issue.
      Excess folic acid remaining in the blood is also linked to numerous health conditions, but its observational.

    • QueenGothel says:

      I was told taking folic acid is not recommended because the receptors can get clogged up with Folic Acid and block Folate from being absorbed. Worsening the situation. I am not a doctor but I would totally ask a Doctor/Professor who actively researches this subject.

  15. Hi there, I am suspecting I have the mutation gene, but havnt tested yet. I take a methalated folate supplement along with other b vitamins from pure encapsulation s. (a very reputable company.) my problem is, after taking it my skin turns orangy/yellow colored . when I stop taking it my skin goes back to normal. Have you ever heard of this?

    • No that I know of. Doesn’t sound ideal, you should ask your doctor Sarah.

    • Sounds like you are getting too much vitamin A (beta carotine).
      When one of my brothers was little, he was still eating baby food, he LOVED carrots. Since he tended to be picky about the veggies he ate, mom gave him carrots almost every time he ate and he ended up turning yellow because of it.

  16. Hi, I was just diagnosed with the mthfr homozygous. I have a high homocysteine level. I have had a lot of balance issues with other issues. I have had close call falling and I have had falls. I was diagnosed with a spine condition a few years ago, syringomyelia. Could this be a mild form of Spina Bifida that wasnt picked up? Even though I have had a lot of spine Mri’s

    • Hi Vicki I am not sure to be honest.
      Assuming you discussed options with your doctor to correct your high homocysteine?

      • Yea I am doing a lot of methyl vitamins and methyl b12. I see him next week and see how to make sure I understand about my homosysteine and I will ask him that same question. Thank you. I just wanted to see if there was information out there.

  17. I was recently diagnosed with MTHFR. I had 3 miscarriages and the last one the Dr I am seeing now decided to test for this. I have a duplicate copy of C677T. My Dr has put me on Folgard 2.2 one time a day until I am pregnant again and then I will be taking two a day once I conceive again along with Metanx 1 mg. I am a little confused because from what I have read online Folgard is Folic Acid mixed with B6 and B12, so if my body can not process Folic Acid why would this be in my treatment plan ? Thank you in advance

    • I am confused as well because your doctor decided to test for MTHFR which means they are knowledgeable on the topic.
      You are homozygous which is more “severe” (your are at increased risk of a problem).
      You should phone your doctor and ask him/her, because you really need more L-methylfolate, not folic acid. Metanx is L-methylfolate.
      Can your write back here when you get the doc’s reason as I am curious and learning more about this as I go also 🙂

  18. Hi Joe,
    I just found out last week I have the MTHFR gene mutation and am very B vitamin deficient. I also have a Positive ANA. I was so glad I came across your article because this is new to me; and I need to learn and know as much as I can. I start a B-vitamin compound soon and my diet has changed drastically. I’ll be dairy free and my proteins will be mainly fish and beans. Lots of green vegetables and fruits. I had been taking Folic Acid for years, and my doctor told me to stop. I need to “detox” from it for a while before starting the compound. I will say this. This MTHFR mutation is the real deal. I had a massive stroke at 34 (I’m 49 now) and have been on depression & anxiety medication since then. Since I’ve been researching, I’m like, “I have that; and that; and that.” One question I do have for you. NASH runs in my family. Does the MTHFR gene and NASH link to one another? When my dad passed away, the doctors suggested my siblings have genetic testing to find out the cause. We checked into this and we’d have had to travel 3 hours to do the testing needed; and very expensive. Not an option for 6 siblings. Thanks!

    • Oh great question I’m glad you asked this because I hadn’t looked into it before.
      It seems the link between MTHFR mutations and NASH is mixed. Some studies found a strong link with homozygous and compound heterozygous, but others no link.
      But theoretically it is plausible because high homocysteine causes NAFLD and NASH, and poorly managed MTHFR mutation causes high homocysteine.
      If you want to look at that more in depth see this http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607907/. In particular scroll to the MTHFR part (use ctrl + F and type in mthfr).
      Also a big predictor of NAFLD is abdominal fat (belly fat), so this absolutely must be minimised.

  19. Hello, I was tested after my second miscarriage. The test came back positive for one copy of the C677T and one copy of the A1298C mutation. My paperwork says this is “compound heterozygous”. My question is; what exactly does “compound heterozygous” mean? Is this just a fancy term or is it different than a ‘normal’ (if their is one) mutation? We are trying to conceive again, will this need even more specialized attention? Is there something special I should be doing for this form of the mutation? I take a methyl folate, a B12 vitamin, and a baby aspirin daily along with one progesterone the 10th through the 20th of every month. Thank you in advance.

    • Check out https://www.dietvsdisease.org/mthfr-c677t-a1298c-mutation/ it is explained for you 🙂

      You need to work with your doc, but yep L-methylfolate instead of folic acid appears to be the best choice.

    • I have one copy of each too. I had two miscarriages and then I was able to carry to full term. I did progesterone supplementation (suppositories). I’m concerned why you are would have you take progesterone starting on day 10 of your cycle!! When you take progesterone before you ovulate ( ovulation typically is between day 15 -19). If you supplement progesterone before you ovulate your body WON’T ovulate. You might be ovulating before day 10 of your cycle so that may be the reason your Dr has you taking so early. If you are in sure, talk to your Dr about it and look up progesterone use before ovulation.

      • Meant to write, ” why are you supplementing on day 10 of your cycle?” Also, I meant, unsure, not in sure. Sorry

  20. Cheryl R. LeBrun says:

    I have MTHFR and both my copies are C677T. I was tested for MTHFR in 2012. Late 2010 I started becoming extremely ill and was treated by Western medicine. I had severe gut pain that never went away, unusual sensations in my throat and mouth, rapid weight loss, and could not eat. I had an endoscope which showed eosinophils in the lining of my stomach. I was treated for mild gastritis with omeprazole products and prednisone. In less than 48 hours I was brought to the hospital via ambulance and admitted for a very extreme high blood pressure and terrible headache. I was admitted. It took over 3 to 4 hours to lower my blood pressure to a safe level. I was having an extreme reaction to the prednisone. After over a year and a half of rapid deterioration in my health, many doctors were involved in unsuccessfully diagnosing me. I finally saw an MD who practiced natural holistic medicine. In a relatively short period of time, she ordered a homocysteine blood test which turned out to be 54(dangerously high). Normal range is 6-13. From there she ordered a genetic test on me for a disorder call MTHFR. As mentioned before I had 2 copies!! The doctor put me on Thorne methyl guard(high dosing) and in 3 weeks retested the homocysteine level and I was now at 6 . At this point the doctor regulated me to lower doses and now am on a maintenance dose of 4 capsules of methyl guard folate a day. My health improved very rapidly. I get my homocysteine blood test yearly and stay under 13 now.
    My diet changed too. I am gluten free now, eat fresh veggies and fruit. I eat dark green veggies and especially like kale. Strangely enough I find sauerkraut to be a very beneficial food for keeping my gut settled. Most of my life prior I was lactose intolerant and had IBS. After being on methyl guard I actually am no longer lactose intolerant and have mild IBS rarely.
    In conclusion I am hearing of more people getting this genetic diagnosis but they can not find anyone to treat them so they are out on a limb on their own. The doctor that treated me is no longer in the area. I would like to identify others who are going through this and hopefully look to start a support group with definitely nutrition playing an important role. Any thoughts on how to help others to get through this before and after diagnosis? I do follow on line support through various sources but would very much like to help others in my region where I reside. Any tips from you would be appreciated.

    Cheryl

    • Hi Cheryl,
      Would you be willing to talk to me offline? I too have had a horrific year and a half of health deterioration that is much better now but still not “there”. No one in my area seems to know much about methylation and I feel very much alone in my search for health.

    • Congratulations on your health successes Cheryl, I’m sure it wasn’t easy.
      I think you could join MTHFR facebook groups, there are many people in those looking for advice and support

  21. Hi Joe,
    I did a blood test for homocysteine and it came back low however another practitioner said it’s not accurate unless tested under specific conditions. I don’t know what to believe. My RBC folate is high and all other blood tests are normal. I have recurrent infections, digestion, fatigue and anxiety issues. I supplement with low dose methylated B vitamins every other day BC my body can’t handle more. I even get anxiety from probiotics. Maybe too many antibiotics over the years killed my gut I don’t know. I recently ordered 23andme genetic testing… Awaiting the results. Just wondering if u have any advice or insight? Thanks for your time you’re giving people a wonderful support here.

    • Hi Jessica,
      Hmm perhaps you’re not having an MTHFR issue. Sounds more like an immunity problem. Related to gut bacteria, hard to say.
      Anxiety as well can be so many causes. I have anxiety too in certain situations, it really sucks.
      I’m very interested to hear your MTHFR results when you get them. Please email me on my contact page when you get them and we can chat about your options 🙂

  22. I was diagnosed with this about two years ago and its a constant annoyance in my life.

    Im wondering if theres any correlation of lactose intolerance and this genetic mutation? Thanks

  23. I just recently heard of this MTHFR gene mutation in the past month or so. I have seen posts about it in 2 separate groups on Facebook that I’m a member of. One is an autism group. There seems to be a belief that this mutation can go hand in hand with autism, but I haven’t found any sources for this. The second group is a tongue tie support group. It gets mentioned here ALL the time. These moms say that the mutation causes midline defects which can cause tongue and lip ties as well as GI problems, sacral dimples, autism/SPD…. But again, I’m wondering if any of that is true or of its all anecdotal? My son has all of the above symptoms and I’m curious if there is anything to the claims that it could be related to a MTHFR mutation..

    • Hi Carli those links are all theories, or speculation.
      You can correlate rising rates of autism with almost anything these days. Vaccines is the other “link” that has me shaking my head.
      MTHFR mutations are nothing new, science just knows they exist now and some of the effects it has. So there are more “diagnoses” of the mutation, but it’s not that they are occurring more commonly.
      I admit I’m not knowledgeable about tongue ties and sacral dimples, but I can’t think of a mechanism by which they would be related to MTHFR mutations. There is not much science on it at this stage, that is for sure. Anecdotes is my guess.
      I wish I was more helpful so that I could offer advice about your son. You could always get his homocysteine checked at doc, because if he had a bad MTHFR mutation then his levels would likely be very high.
      Oh but I do think there is a growing body of evidence that links gut bacteria diversity and health to autism, so I’d be looking into that more than MTHFR.
      I’m very happy you are thinking critically and reached out to ask 🙂

  24. Hi Joe,

    My son was just tested for MTFHR mutation. His test came back as compound heterozygous MTHFR C677T/A1298C mutation. He was diagnosed with autism (higher functioning) and we went to see a Dan doctor who does methyl b12 shots. We had him on the shots for about a month, but he became very spacey and seemed almost as if he was regressing. I spoke with the dr’s office yesterday and they said to stop the shots that he may not be a responder and see how he is in a couple days. I then received the results of this test that showed the mutations. Is the safest way to help a child with this mutation giving him a lot of folate? I have this product called field of dreams that is powdered raw green food that I can put in a shake for him. My fear, because I really don’t understand all of this, is that giving him too much if it can be more harmful than helpful because he can’t break it down into the form of what it properly needs to be??? Any information is greatly appreciated.

    Thank you,
    Heidi

    • I don’t consider myself well-researched on autism, sorry Heidi.

      The MTHFR mutation and autism link is only a theory (ie unproven). But it sounds like those shots are not helpful.

      If the powder contains folic acid then you should skip it. Otherwise it should be fine.

      But you should speak to his doctor about this.

    • I would be careful using any type of injection because they all have some type of preservative or chemicals in them which can be much worse than any benefit of the vitamin.

    • I would read information from Amy Yasko. She specializes in that area.

    • I’m very sensitive to yeasts, molds, and aged items. Yeast-category exposure makes me spaced out, tired, even spots in front of my eyes.

      I’m on B12 shots. You can get B12 shots from non-yeast sources,mI am told. I do OK with the standard shots, luckily.

  25. Katherine says:

    Hi Joe,

    Interesting article and information. Thank you. I was diagnosed with MTHFR C667T Homozygous when I kept miscarrying at age 37. I am now 50 and active. I live in Switzerland and take riding lessons weekly and walk my dog in the forest daily. I haven’t really noticed much for having MTHFR but I am now starting to notice a lot of soreness in my joints and muscles, I also have Hashimoto’s. I feel great some days and not so great other days which leads me to think I may have Fibromyalgia which I am not allowing to stop me from what I love to do. Back when diagnosed with MTHFR my Endocrinologist prescribed Folgard (Folic acid, B vitamins) at 400mcg twice a day…so I took it…for about 10 years. Then I started reading all the information about how bad it is if you have double copies of C667T so I stopped taking it about 6 months ago. I now take Kyäni and eat healthy. I simply can’t find a doctor in the US or Europe who knows anything about MTHFR (or even ever heard of it) so I am left to treat on my own or what I read online and who knows what I am reading…right? I am about to throw out the entire year of prescriptions of the Folgard (Folplex) as I have read many articles on not taking it for treating this disorder. Also…in the past (since taking the Folgard) my homocysteine levels were ok…last year. Not sure what they will be this year since I stopped taking it and I also stopped taking a baby aspirin a day as I was one big bruise). If you have any advice for me that I should indeed stop taking the Folgard (Folplex) and how to find a doctor to assist me with this condition…I would greatly appreciate it. I visit the US (Florida) once a year.

    • I can’t give direct medical advice without knowing full details.

      Definitely check your homocysteine levels again when you see your doctor. To see if there is any change since you have stopped taking the Folgard. If it is high then ask your doctor about L-methylfolate.

      But yes you should not have been having folic acid. Granted back then the science was not where it is now so our understanding was poor.

  26. mmclassics says:

    Hello. In the last two years, we have discovered that my husband, daughter and I all have the MTHFR aberration. (I’m not sure which variance, but the genetic testing should let us know withing a few months.) I have already had three kids, but sure wish I had known about the need for the 5-MTHP alternative to folic acid. My mother and sister had this same issue.

    After my son had some severe back issues, we discovered he had a mild case of Spina Bifida Occulta, which probably contributed to a problem with a bulging disc – while he was still in high school. After doing some more reading about symptoms, I am wondering if my youngest son has it as well, but has no symptoms. Since pregnant women are supposed to take Folic Acid in order to prevent things like Spina Bifida, it seems like people who don’t process this well, could possibly have the same issue – or the less severe Spina Bifida Occulta. Since I have a daugher too, it will be nice for her to know about this long before her “child bearing years.” Our son’s doctor hinted that his future genetic coding could be impacted by a lack of this pre-Folic acid as well.

    Our older son has been diagnosed with EDS – or Ehlers Danlo Syndrome – Hypermobility, within the last year. Gut issues, and joint – or poor collagen formation, are major parts of the EDSH. The MTHFR mutation appears to be a common thing for EDS. Some people are even wondering if some joint and muscle issues might be lessened with the proper nutrition – which would include getting the RIGHT folic acid.

    As far as the Lacose Intolerance – That problem started for me after I had completed a few too many rounds of antibiotics. IF I am supporting my gut with probiotics, I don’t usually have lactose issues. Since EDS people tend to have significant gut issues, a great pro-biotic with mixed strain of probiotics can be an extremely helpful treatment.

    Thank you for this informative page. A friend who had been chasing Lyme Disease suggested that I look for information on the MTHFR gene.

  27. Hi
    I have been diagnosed with Gilbert’s syndrome last month. Since 10+ years am not living a normal life like others. Suffering from continuous migraine, fatigueness, back pain, low energy, nausea, vomiting, IBS, underweight. All my blood test like peripheral blood smear looks normal, oly bilirubin levels are abnormal in LFT. MY doctor told GS will not be the reason for all my symptoms. Lost faith in allopathy nd started taking Ayurveda medicines. Now confused with mthfr mutation. Does Gilbert’s have a connection with mthfr? If so what are the tests should I have to undergo?? Nd how the test will be taken?

    • Hi Yuva,
      Not sure of any link between MTHFR mutation and Gilbert’s. You can test your homocysteine at the doctor first to see if that’s high. If so, then you could consider genetic testing

    • Hi Yuva,
      Not sure of any link between MTHFR mutation and Gilbert’s. You can test your homocysteine at the doctor first to see if that’s high. If so, then you could consider genetic testing

      • Kimberly says:

        I have the double mutation C677T/A1298C – I had 6 miscarriages until they found out I had MTHFR and they put me on blood thinners and I now have 1 beautiful daughter. My question is I have a variety of health issues that can not be explained and have been told I have Fibromyalgia …Because all my scans/ lab testing other than arthritis and low VIT B & D all the other tests came back normal… I have suffered with ADHD, Anxiety and Depression and at one point was told to take SAM e . I tried it and it helped a lot with my arthritis in my neck and back but I stopped taking it because I was told it would increase my homocystein levels. What is your thought on Sam e while having MTHFR and any other suggestions on help with the low energy, all over body pain and ADHD- Anxiety and Depression ??

  28. Kyna Schulz says:

    Hi! I have a heterozygous C677T and a homozygous a a1298c. I keep reading that I need to limit my protein (I believe due to the homozygous a1298c and a toxic amount of phenylalanine in my blood stream?) Is this anything you are familiar with and could you suggest a beneficial diet? I was currently on a high protein diet and everything says beans and legumes are crucial for the MTHFR mutations (high in protein) so the diet part is becoming quite difficult for me to figure out. Thank you!

  29. Thank you for this well written and responsible article. I appreciate how you have refrained from truth-stretching and fear-mongering like so many do, and that you consistently refer people to their healthcare provider rather than suggesting they take matters into their own hands.

    You don’t go into the chemistry of why excess folic acid isn’t recycled by the body in the same way that folate is, but I think this is an essential point and would like to know more. I do not have a MTHFR mutation, as far as I know, but as a woman of child-bearing age I have been told by my doctor to supplement with folic acid and am hesitant to do this if it can cause or mask other issues, especially since I get a good amount of folate in my diet already. Could you go into more detail about this? Specifically, what are the risks of getting too much folic acid for someone who doesn’t have (or doesn’t suspect they have) a MTHFR mutation?

    • Good points Kristen, thanks for the kind words ans feedback. I will look into researching and writing that.
      In some people folic acid doesn’t make it past the first step to DHF, and then remains as is in the blood stream. Folate on the other hand will always make it to DHF and then THF (if you look at the diagram).
      No real risks if you convert folic acid well. You can test your homocysteine at the doc as part of routine blood test, and if that is normal you can most safely say you don’t have a bad mthfr mutation and therefore are safe to have folic acid.

  30. Hello! I am considering to do a test for MTHFR methylation as I had very bad anesthesia reaction 4 years ago during my C-section (anesthesia – mesocaine). As I am again pregnant I sm worried that this might happened again.

  31. Thank you for your informative site. I was diagnosed eight years ago with two copies of C6717 mutation. I was tested due to having several miscarriages. However, nothing else was discussed about my future health. I am 47 and now wonder what the implications may be. I want to contact my provider but I’m not sure their understanding or how to approach the topic. What do you advise should be my first questions? Also should I get my two children tested as well?

    • Ask to check your homocysteine at the doctor, because of your MTHFR mutation. This will show you if having any implications on your health. They can add it to routine blood tests.
      I don’t believe it necesary to have your children checked unless there is ongoing debilitating conditions that you cannot solve with your doctor.
      Try make sure you all eat lots of green leafy veg, everyday if possible

  32. I have compound heterozygous Mthfr and homocysteine level of 16.8 age 47. I have many health problems fibromyalgia, chronic fatigue, insomnia, depression, anxiety and IBS to name a few. I went to a hematologist who put me on folic acid but stopped due to research and making me feel bad. I have had gastric sleeve surgery which limits my intake of food and I know I need to supplement with methyl b vitamins but I am also afraid to cause some type of manic problem. Hoping for suggestions on what to do from someone and I stay nauseated too. How to proceed with treatment because I live in a rural area and no one really knows how to treat this. Please help!!

    • Hi Sue yes sounds like you will benefit greatly to supplement with B12, perhaps L-methyfolate too.
      But it’s a risk for you because of psych issues, this stuff can really influence mood heavily (as you said manic problems). Especially if you have bipolar disorder. So then you need supervision from a doctor.
      I would try l-methyfolate with b-12 as well, but definitely not without your doctor supervision

  33. Kim Faechner says:

    I have just been diagnosed with MTHFR homozygious. This explains 1 1/2 decades of medical issues for me and almost 25 years of problems for my mother, I am wondering if this genetic mutation has anything to do with the three herniated discs, degenerative disc disease, spinal stenosis and arthritis that I have in my neck, and lumbar spine. Also wondering if the medication EnLyte is the correct thing to be doing?

    • Hi Kim haven’t read anything about spinal disc issues, and unsure how it would affect.
      BUt I am not well-informed on that topic.
      What is the exact ingredients of EnLyte? It seems to have regular folic acid too which is not ideal. You just want l-methylfolate on its own

  34. Hello, I was recently diagnosed with heterozygous c677t. I did not have any symptoms/problems before finding out other than a miscarriage in February. I have been seeing a chiropractor/functional medicine doctor who has put me on several things. I found out this weekend that I am pregnant again and am very concerned that I am taking too much. All of this is very confusing to me and I can’t seem to find a straight answer on what exactly I should be taking and the appropriate dosage. This is what I am currently taking:

    Prenatals
    (contains 1000 mcg of folate as calcium L-5 methyltetrahydrofolate)

    Methylation Complete (twice daily)
    Amount Per Serving:
    Vitamin B12 (Methylcobalamin) 5,000 mcg
    Vitamin B12 (Hydroxocobalamin) 2,000 mcg
    Vitamin B6 (Pyridoxal-5-phosphate) 2 mg
    Proprietary Blend of: Quatrefolic™ (Tetrahydrofolate) and (6S) 5-MTHF (5-Methyltetrahydrofolate) 3.2 mg

    Methyl Folate Plus: (twice daily)
    Vitamin B2 (as Riboflavin-5-Phosphate) 30 mg (2147% DV)
    Calcium -L-Methyltetrahydrofolate 5 mg
    Folinic Acid 2 mg
    Vitamin B3 (as Niacinamide) 125 mg

    • Hi Ashley, you don’t have the “severe” form of mutation, for the record. Unless you meant compound heterozygous.
      But I can’t really advise you here about personal medical things.
      Nothing I see seems to be a problem, BUT you need to speak with your doctor/pediatrician with all the details youve shown me here.

  35. Hi, thank you so much for this article. I am 46, suffered all my life with anxiety issues and just feeling sick all the time. After seeing dozens of internists because of high blood pressure I finally went to see a ND who tested me for mthfr, she confirmed I am compound heterozygous. I am currently taking b12 5000 with methylcobalamin and 5- MTHF 1 mg. I also take vitamin C,D, iron, grape seed oil extract. I felt better for a while but I am again having high blood pressure issues and just feeling unwell, I am so desperate to find a way to detox better, what do you recommend? Thank you!!

    • I don’t believe the supplements will help with high blood pressure.
      It’s related to stress and diet and levels of physical activity.
      These articles may e of help: https://www.dietvsdisease.org/category/heart-brain-health/blood-pressure/

    • Michelle says:

      Have you checked your sodium/potassium and calcium/magnesium Balance? Magnesium can be helpful for high blood pressure.

      • Thank you Michelle, I am now taking vitamin D, grapeseed oil extract, magnesium, zinc, vitamin C and NAC and have been feeling better. I think I should also start taking iron.

        • Michelle says:

          Vitamin D is also very important. And yes iron too. But make sure you check your iron levels with an iron panel blood test because too much iron can be very dangerous.

    • Michelle says:

      I would also ask your ND about taking active B6 and L theanine to help with anxiety.
      When it comes to detoxing, your gut plays an important role as well. So if your gut health is not optimal, I would check into that as well….stool test, etc to evaluate your gut flora. Hard to detox with a clogged up gut! Chinese medicine has a lot of treatment options for such issues along with probiotics and fermented foods like homemade yogurt.
      I have been through a horrible past year, but I have learned so much. Hopefully at least some of this is useful to you! 🙂

  36. I recently found out I have the MTHFR gene from both parents from a stroke I had 2/29/16. I’m 23. I’ve had depression, I have anxiety & insomnia plus horrible immune system. Also a rare stomach disease with chronic migraines & see a bunch of neurologists. I’ve already had a miscarriage. I never knew that there could be a blood mutation like that. Now I’m scared I’ll have another stroke..

  37. Hi Joe,
    Interesting article and information. Thank you. I’m 23 years old, was diagnosed with MTHFR C667T Homozygous , heterozygous factor V Leiden and positive ANA level , after having a massive DVT last year . I’m not taking any supplementation , except vit D and aspirine . So do I have to take L-methylfolate for life ? Does it exist in middle east ? And during pregnancy the dosage is the same?
    Thank you

  38. Hi Joe,

    I was recently diagnosed with both MTHFR A1298C & C677T homozygous. My Dr. prescribed me Methyl Protect (1/day) Ingredients: Riboflavin 25mg,Vitamin B6 10mg & Folate 2000mcg. I was regularly taking this supplement but have not re-purchased in about 4 months. Lately I am experiencing short dizzy spells with anxiety, something that lead me to have labs drawn originally before being diagnosed. Are these symptoms connected? My cousin who has the MTHFR hertero was having mini-strokes, is this something I may be experiencing as well?

    I have an appointment with my Dr. next week, but could not find too much on the internet about dizziness+MTHFR.

    Thank you for your help,
    Erin

  39. Thanks for sharing, a nicely written and well referenced article!

  40. Tania Morozoff says:

    Hi. My son is homozygous C677T. He is on a waiting list for surgery. What anaesthetics must be avoided? Would it be better to ask for sedation?
    As a child he had dental work done under general and was unwell with nausea for 3 days.

  41. Hi just wondering what you consider as a high homocysteine level? Thanking you kindly.

  42. Mouth ulcers can be caused by a vitamin b deficiency 🙂

  43. Hi I know that it is not advisable to drink alcohol, but given the lesser of the possible evils, which is my best option out of hard cider, beer, wine, whiskey or gin and why?

  44. So if folate doesn’t build up in the blood how is it possible to have high folate levels when I had blood tests? I wasn’t taking folic acid but I was eating a good amount of greens in salads and green smoothies. This was a few years ago when I was high raw vegan which resulted in adrenal issues, anxiety and severe depression presumably related. I’m now eating almost paleo with some potatoes and white rice and feel much better. No grains apart from white rice maybe once or twice per week or processed foods at all. I haven’t yet had a MTHFR test but intend to in a month or two when we move back to the UK because of family history with depression, digestive issues, heart issues etc.

    The other thing is that we’ve been trying for baby number 2 for a few years to no avail even though testing shows all is working as it should for me and my husband. With our first child I was pregnant without even coming off the pill! Any tips or comments please on these two issues? Thanks in advance.

    • Hi bonnie it depends on what test you had.
      Serum folate (liquid portion of blood) can fluctuate greatly based on recent intake, so can show as high range. But do you mean high as in excessively high?
      RBC folate (folate in red blood cells) is a better indicator of long-term folate status.

  45. How does being euthyroid figure in? I am on a high dosage of levothyroxine to suppress thyroid bed growth. I had thyroid cancer 16 years ago. I only found out this week that I am heterozygous MTHFR. I was tested after three miscarriages within three years. However I had one child at 41 and it was a completely uneventful pregnancy and birth. Last year my physical was pretty stellar for 44. I do prefer fruits and veggies. However, why the miscarriages and one very healthy pregnancy?is it because as we age the good gene grows weary and the bad gene is able to express itself more? Maybe the miscarriages were unrelated to this mutation?

  46. I’ve had shingles twice now, I’m only 34. Both times I have been breastfeeding an older baby, 10months + . I tend towards anemic since being tested at a young age and especially during pregnancy. I wonder if this could explain the shingles, anemia and also persistent anxiety and mild depression?

  47. I have been trying to find a doctor in West Virginia that is trained in how to treat Mthfr. I am hoping you or someone know of a doctor in WV or even a neighboring state. I am not sure what to start first as far as B vitamins go and at what dose to start at. I appreciate any advice or information. I am compound heterozygous and feel this could be the root to all my long life long health problems that started at age 12 with migraine headaches.

  48. MFTHR dangerous! That’s a bit of sensationalism!
    Knowing you have it and knowing how to remedy are the keys 🙂

  49. Suebee,
    You can check certain things to see if they are in fact an issue for you….
    1) homocysteine levels: this is a byproduct of methylation that will back up or accumulate in your body when methylation is compromised. B vitamins, especially the more easily absorbed (folate rather than folic acid, methylcobalamin rather than cyanocobalamin, etc) will help. Elevated homocysteine is a big risk factor for heart disease.
    2) micronutrient testing through Spectracell laboratories to check for other micronutrient deficiencies such as magnesium, zinc, antioxidants

    I would start here. Seeking health has very good supplements for these issues…

  50. Michelle says:

    Vitamin D is very important. And yes iron too. But make sure you check your iron levels with an iron panel blood test because too much iron can be very dangerous.

  51. Michelle says:

    I am not, but I have been under the care of one for 8 years. I have been tested by a geneticist along with a million other things. I have experienced so much in the past two years…..it’s amazing how much I have learned throughout this tim . I have been dealing with everything from parasites and mold to MTHFR to autoimmune disorders. I am grateful for all I have learned. Just wish I had known some these things sooner!

  52. Michelle says:

    Could be diet related or being dehydrated when they took your blood will make the concentrations higher due to low blood volume.

  53. Michelle just want to say thanks for your response. My homocysteine level is 16.8. I am at risk for a lot of problems with b vitamins because I had gastric sleeve surgery 3 years ago. Thus, this limits my food intake. What type of doctor treats elevated homocysteine and compound heterozygous Mthfr. My brother died at age 47 with a PE. Not sure if he had Mthfr for sure but I am almost positive he did because my Dad has since had a DVTS and showed positive for homozygous mutation. This means that for me to have compound heterozygous my mother also has at least one mutation. I am very limited to doctors who are knowledgeable on this field or for anyone who even knows what it is. I seen a hematologist who put me on folic acid and the wrong type of vitamin b 12. So I stopped. I need to know what type of Doctor to see an endocrinologist or even skype a doctor who is knowledgeable in this field because I suffer from anxiety and depression. I have bought vitamins from seeking health but afraid to start because I fear of making the wrong move. I feel Mthfr could have contributed to many health problems over the years. I would appreciate any advice.

    • But also any supplements should always be started slowly because more is not better. So I would say take a small dose for a week then up it gradually until you feel a difference. But even the geneticist said this may not be something you take every day for the rest of your life. Maybe you’ll need it for a while then stop. Then start again. Every one is different, so I guess trial and error is the only way…. just be careful and go slowly. Write down what you take when and keep a journal. That will help you track your progress.

  54. Suebee,
    I wish I could tell you that there are doctors out there that understand what to do with this type of issue, but theyou are few and far between. I worked with a naturopath and geneticist to examine my issues and went with their suggestions. I think many doctors are intimidated by the MTHFR gene and have very limited knowledge. I would try to look for a dr who specializes in functional medicine.
    What I have found to be helpful is the site from Dr Ben Lynch. He is the expert on MTHFR and has supplements geared towards methylation. I am now taking the product he has specifically for homocysteine. It contains methylated forms of b2, b6, b9, b12 and another component important in the methylation process. I have Heterozygous SNPs on both the 1298 and 677 genes. My Homocysteine level was 11.1 which is considered to be high (range given should be under 10.4 but optimally probably even lower like 9 or lower. I’m not sure what the rest of your SNPs are, but I can tell you what my geneticist recommended to me….. definitely methylation b vitamins, electrolytes to balance sodium and potassium, l theanine for anxiety if present, molybdenum to help with sulfur metabolism, magnesium, and coq10 for cellular support. I have also had to watch my vitamin D levels and zinc.
    One other issue I have had is that I cannot tolerate injections because of the preservatives in them. I had tried hydroxycobalamin b12 shots and had a very strong adverse reactions. With your dietary restrictions, it is concerning about your nutritional intake of vitamins. If possible, supplementing is probably very important. I also had my micronutrient levels tested which is a very good indicator of your vitamin deficiencies at the cellular level. This was done through Spectracell labs.
    It is very hard to find all of this stuff out. I have been working very hard to find these things out for a long time now. Try naturopaths, geneticists, or doctors of functional or integrative medicine who would probably be the best. I have also been going to am acupuncturist and Chinese herbalist. My gut needs serious healing as last year I had discovered I had a parasite, then I was on antibiotics which are super harsh on me….then I dealt with fungal yeast. All of this started with exposure to mold. So I have come a long way and am still learning!

  55. Hey guys, I’m completely new to this world. and quite overwhelmed if I’m honest.. i have struggled a lot for the past 7 years with anxiety and depression and no success with meds. My psychiatrist recently performed a MTHFR and unfortunately she didn’t explain it clearly to me and all I can read from the test is I have a reduced folic acid conversion….?!!?!????! I”m little lost. Could anybody give me any more information as to what this means and what direction I go with it..

    • Hi Jada seems like you have a mutation, but no info on the type?
      Talk to your psychiatrist about trialling an L-methylfolate supp + b12 at very low dose.

      • I’d just like to warn that I took L-methylfolate and it made me extremely depressed and anxious. I quickly got off it. Tried it again, and the feelings of despair were horrible. So I don’t know what to do.

  56. Michelle says:

    Jada,
    If you have the gene snp where you cannot break down and utilize folic acid, then you should not take it, as it will further burden your system. I’m this case, you would want to instead take this vitamin in the methylated form of 5 MTHF, which is already in the form that your body can use. Before supplementing, I would try to seek out definitive answers on exactly what your gene mutations are though….it doesn’t sound like you are too sure what you are looking at. But the main idea here is that if you do in fact have compromised methylation or the inability to break down certain vitamins, then you will need to take vitamins which are already broken down so that your body can use them. Folate or B9 in its more bioavailable form could be very helpful to your situation, while folic acid could actually be harmful to you. Aldo keep in mind to go slowly when starting anything new. Has your doctor checked your homocysteine level?
    Other vitamins could also be helpful for anxiety too. Have you checked things like magnesium and vitamin D?

  57. Michelle says:

    Foods that contain natural folate are ok, but foods like grains which are fortified with folic acid should be avoided for those with that gene snp.

  58. Tiffany Francis says:

    Does this MTHFR have anything to do with anemia?

  59. Joanna Katzen says:

    Hi! Thanks for this great article. I went to the 23andme site and it doesn’t list MTHFR as one of the things they test for. Because so many people have said that they’ve been tested through them, I wrote to them to ask and they replied that they don’t test for the MTHFR gene or gene defect! Can you please tell me what I’m missing? Everyone insists that they do! Thank you in advance.

    • My understanding is that it does test that gene, although they are not allowed to test for any medical reason or anything linked to medical, so they are not even listing it anymore on site.

    • Hi Joanna, it’s tricky, login to 23andme, follow this link/paste into your browser.
      https://www.23andme.com/you/community/thread/22113/

      Hover over her links in the blog post, if you are logged in it gives you your result, see below for what it means;
      C677T a result of AA would be homozygous, AG is heterozygous, GG is normal ie no mutation.
      A1298C a result of GG would be homozygous, GT is heterozygous, TT is normal.

      You can access your raw data in the dropdown menu under your name in the top right of the screen. To search these you need to use the SNP
      C677T – snp is rs1801133
      A1298C – snp is rs1801131

    • Once 23andme notifies you that your results are ready, download your entire genome (raw data file). It’ll be in ZIP format, but don’t worry about trying to extract or unpack the ZIP file. You then use other sites such as Genetic Genie, Promethease, Amy Yasko, etc. to view your MTHFR status. Those sites are set up so that you just upload your ZIP file. Some of those sites are free and some have a small fee. I used all of those plus SNPedia and 23andme’s own genome browsing tool when researching my own results. Good luck.

  60. What is the talk about SIBO and the MTHFR? I have 2 copies of C677T Homogenous. I am also suffering from SIBO.

    Thank you for all this wonderful information I am a senior and spending is limited so it is greatly appreciated that you share your knowledge. Do you have information on SIBO?

  61. I’d appreciate if anyone can tell me where to get non enriched wheat flour and its products?

  62. Anne Scruggs says:

    I am a 39 year old female. I have had GI problems all of my adult life. About 6 years ago I started having seizures. After much testing, we finally discovered my B12 was less than 100 and that I had Pernicious Anemia. I started shots of B12 as well as a rigorous phlebotomy schedule because my liver was found to be coated in iron due to genetic hemochromatosis. Boy, that was a tough year balancing the two treatments! I finally got into normal ranges and was cruising along pretty good. ADHD symptoms were much worse after having so many seizures but meds have helped in that arena as well.

    About a year ago the seizures started again even though my B12 was nice and high. More testing uncovered MTHFR mutation almost accidentally and after adding methyl folate to work with my B12, I was back at the top of my game. Six months or so ago, Doctor had me go on the Paleo plan to see what we could figure out on the GI problems. It was a success! Until there were those meals I ate at restaurants or when I went off plan. I started swelling, breaking out in hives and blisters along with my mouth and throat swelling. Allergist tested me and I tested positive for all grains, dairy, and soy. I am still trying to wrap my head around the food plan and amount of cooking now required of me! Anything processed or packaged has at least one of my new allergens.

    All of these seem to be related to my body not processing foods and chemicals normally resulting in a compromised immune system. That seems to be what the MTHFR mutation is all about. My question is, how do I heal or “fix” my immune system!? If I can improve my immune system, in theory, my allergies will subside.

  63. You are doing a wonderful thing by sharing all this information.
    I was diagnosed over a year ago as heterozygous for both C677T and A1298C. Until I stumbled upon your website I was really floundering. I have been suffering for 20 years from insomnia, migraines, IBS, Anxiety, and more recently Adrenal Fatigue, MS and suspected Fibromyalgia so that would suggest the mutation has been “switched on” if you like. I intend to get my homocysteine levels checked next week and have sought the advice of a naturopath (he’s not a MTHFR specialist). Methyl B12 was suggested along with GABA amongst other things. The GABA taken before bed sent my anxiety levels through the roof and I couldn’t sleep so next I tried SAM e and had the same reaction as with GABA-heart palpitations etc. much to the amazement of my naturopath.
    I tried a Liposomal B12 spray and got an instant migraine.
    I am currently taking 5HTP, Magnesium, Vitamins D, K, B2 plus CoQ10 and Melatonin and am sleeping a bit better but the anxiety and migraines haven’t abated.
    What are your thoughts on Liposomal Gluathione? I read it was a more gentle approach to MTHR treatment. Hope this helps others.
    Great video by the way.

    • Hi Lee, I’m not well-read on liposomal glutathione

    • Lee, liposomal glutathione has been a true lifesaver for me. I was suffering with serious oxidative stress, low thyroid, and guy absorption problems. Now I know being a Mutant helped create my health problems. Anyway my functional med MD started me on glutathione to start the healing process. The first few weeks I could feel it flowing through my body like water flowing through pipes after the water has come back on after an outage. Truly wonderful for me!

  64. I was recently diagnosed as heterzygous, one copy each of C677T and A1298C, and have hypertension. My Homocysteine and Vitamin B12 and Folate levels are high. Any suggestions?

  65. folic acid is bad for some with the mthfr since it is manmade unlike folate which is all natural. i was advised by my MTHFR specialist to avoid folic acid as much as i could and stick to folate. my body lets me know when i have too much folic acid in my body in some not so nice ways lol

  66. Hi
    I am wondering if anyone with mthfr gene reports side effects such and brain fog, wooziness or dizziness, eyes going funny, or other hard to explain cognitive reactions when having taken synthetic folic acid in iron tablets.

    Im just starting to put two and two together after just recently being told that it can be unsuitable fir those with mthfr gene.

    But ican not read or find anywhere any link to these cognitive problems that i find hard to describe.

    • Karen – you might be dealing with over-methylation brought on by folic acid supplementation or too much folate supplementation. If you are MTHFR positive, folic acid is the worst thing you could be taking. .

  67. Impressive article!
    I was wondering if, for people with lower MTHFR would you recommend also B12 supplementation and if so, what kind.
    Thanks

  68. I’ve recently had test done and found that I have factor 5 and mthr. For years ive had issues with blood clots and had taken blood thinners. After these tests my doctor has suggested I take folic acid and I haven’t taken blood thinners for 2 years now. After reading this article I am more confused than ever.
    My question is …. where is the most reputable place to find all the information I need to decide which supplement is best for me?

  69. What does this comment mean exactly? “There are some important factors to consider before taking 5-MTHF though. Namely your vitamin B12 levels (and a particular variation of vitamin B12) and risk of anxiety, bipolar or depression.”

  70. Hello, this question is for my pregnant wife. We want to know where does Folinic Acid fall on the diagram at the beginning of this article. I’m curious to know if the MTHFR mutation will limit absorption of that. She was told to take Folinic Acid but thinking now maybe she should just take L-5-methyltetrahydrofolate with B12, as its already baked and ready for use.

    Also does anyone know the optimal amount of folate/L-5-methyltetrahydrofolate and B12 for someone that is pregnant or nursing? She is currently taking 1MG of L-5-methyltetrahydrofolate and 200MCG of B12.

    Thanks for the advice!

  71. I was diagnosed with MTHFR when seeking fertility treatment. We found out my husband couldn’t have babies due to the quality of his sperm, and that was a reason we lost six babies.
    During routine blood tests, i was found to have MTHFR gene mutation.

    My daughter, born from our first round of ICSI through IVF, has both types of MTHFR. Her immune system is low, and she has problems with stomach aches. Other than that, she’s happy and loves being outdoors.

    I do worry about the future at times, but for now, we are enjoying life, and living without stress.

  72. Someone Else says:

    REALLY??? The differences among people are coming from the “tiny differences in our genes”? Based on what? The widespread propaganda in the mass media??? And these differences control your behavior to other??? What is the evidence behind those statements? Cite epidemiological studies that prove what you say, otherwise this is just your OPINION! And you know what they say about opinions…

  73. Dulce Andrade says:

    Thanks for Sharing this is very informative. I was told I have MTHFR about 3 years ago, take on contraceptive. and Homecysteine levels are High recently tested at 16.7. Originally was given prescribed Folic Acid 2 mg. After these results I was told to go to 4 mg a day. I don’t understand my doctor gives me Folic Acid to lower homecysteine but MTHFR can process this.
    My husband and I start planning to start a family soon and I am concern on what I should be taking.
    Some places say to take B supplements other not. And some say to not eat meat others you can.
    Also since college I have a massive hair thinning. recently diagnosed with Androgenic alopecia not sure if this is at all related with MTHFR.
    Considering going to Naturopathic or Holistic Doctor hoping for better guidance.

    • Do go to a Naturopath or holistic doctor, I’m finding this is a very complex condition and each person should get individualised treatment. People with MTHFR should NOT be taking folic acid (synthetic) as the body cannot synthisize it. Instead you should be taking the natural form folate or folinic acid. Best wishes 🙂

  74. Great article! My daughter’ has some SNPs .. C677T HOMOZYGOUS and some hetero DHFR genes … I’m looking to sort a few things first e.g. Potassium & magnesium before I start B vits .. then active B12 … then methylated folate. In the meantime I see Touchstone Essentials do a Supergreens supplement … would it be okay to start her on this immediately? It’s a wholefoods (folate) supplement. She has reacted very aggressively to B vits and methylated folate in the past (when I was less educated about the topic). I’m assuming it should be okay and I won’t have a problem with too many methyl donors … ?

  75. I was diagnosed this last year with this mutation at the age of 52. I have been clinically depressed most of my adult life, I have had multiple miscarriages, and my only son was born with a heart defect that eventually took his life. I wish this testing had been around 30 years ago. I was prescribed Deplin and felt better with a week. It is expensive and would like to find an alternative that is cheaper and still effective. I hope that all women with miscarriage issues get tested. It can save a lot of heart ache.

    • Ruth Lacey says:

      I’m sorry for your losses. I’m not sure what country you’re in but in the UK you can just go to a pharmacist and buy methylated folate, which is what you’re on, I think.

  76. I have MTHFR & take low dose aspirin & folgaurd rx which I think is a high dose of folic acid, B6, B12. Is this medicine I should be taking, I wonder if my dr. Is right with this. I don’t know anything about what foods to eat or not to eat. Thanks

  77. Interested in talking shop? I consider myself an expert in the topic and wanting to build relationships with other experts in the field.

    Thank you,
    Dr. Steven Smith

  78. I have not read other readers comments, so I do not not know if I am repeating a point here. I would have liked the video to state clearly that Folic Acid is synthetic, never found in Natural food and that, if we have a polymorphism on one of our MTHFR genes then unprocessed Folic Acid may sit on the cell receptors jamming the needed natural 5-MTHF from entering the cell. 5-MTHF is only useful inside the cell where it performs several key processes relating to gene expression and the correct balanced production of our neurotransmitters, enzymes and proteins. This is very relevant to pregnant women as they may believe more Folic Acid is better than less. Whereas this might actually cause them a greater chance of neural tube defects or less obvious methylation deficiency problems. Please do your own research by reading the work of Dr Ben Lynch, as an example, to convince yourselves of this issue. I have no tie nor interest in promoting his work.

  79. Does anyone know any correlation to C677T single mutation and rheumatoid arthritis? Any idea on the best place to go for help? Desperate as disease is acute and severe onset 3 months ago…

  80. Sandy burrowes says:

    I’m new to this site i have c677t and a1298c . Can you tell me what is a safe level for homocysteine is ? Mine is 13.5 .thanks in advance

  81. Hi; Getting tested for the MTHFR genetic mutation can be done by blood test…all the MD has to do is ensure that the lab can do this on-site…it is not expensive.

  82. Hi, thanks for this info! I am curious about nutritional yeast. Are there any good choices with this?

  83. Help i was exposed to mold

  84. Hello 🙂

    I was wondering what peoples Homocysteine levels were when diagnosed with MTHFR mutation.

    My Neurologist has just referred me to the ‘Metabolic team’ who will apparently do the test. But, like an excited child at Christmas, I cannot wait to know, hah

    In brief, I have had 3 Homocysteine tests done, with results of 12.2, 9.5, and more recently 12.7. Fourth test result pending. The 9.5 was a few Months into self injecting B12, plus taking B12’s co factor Folate @ 5mg. I have tried out different forms of B12, and I think I respond better to Methyl as opposed to Hydroxo.

    I have been treating like this on and off for 2 years, and stopped treating 4 times, and each time I do, I decline. I have been super sick for nearly 3 years now with over 10 infections. One being SIBO. I have read there is a link between MTHFR & SIBO.

    Also, for a decade I have had Borderline or deficient Folate (not treated can you believe). When I stop injecting B12 and taking the Folate, after a few months my B12 levels remain high and Folate levels plummet. Of course, B12 needs Folate to be utilized, so, with low Folate, B12 will sadly just get excreted, which would explain my crazy Neuro symptoms (which could also be Lyme related, as I have that also).

    I am going to push for the MTHFR test next week with my Gastro, as I don’t want to wait months (I have already lost 3 years of my life completely), with many years before that struggling. Just wondering if you guys think it looks like I could have this mutation.

    I have already taken many drastic changes. LOW FODMAP diet, Gerson Therapy, removal of Amalgams, Organic produce only, Distill my own water… on and on and on.

    Also, I think of my Mother, who is also B12 deficient, with Borderline Folate, has high blood pressure. And, I remember as a young Boy she was forever having miscarriages, and she has IBS too. Although that is what my SIBO was diagnosed for many years as, so, I wonder if that is what she actually has, also.

    So, to me it certainly seems I/we fit the criteria. But, of course, always appreciate feedback from others 🙂

  85. Eve Anderson says:

    My granddaughter has just been diagnosed and it makes sense both from her history and the histories of both parents. I am not an expert on genetic diseases, but can the parents also have the disease or are they strictly carriers? At least one sibling, if not both, has very similar symptoms. Both parents come from families with Northern European ancestry. I realize that the symptoms could have other causes, but they are definitely extremely strong through the generations. Needless to say, we are going to develop a testing strategy for the family, starting with my other grandchildren in this family first.

  86. I’ve tried both the genetic genie and the Promethease reports. I would have to second your recommendation, the Promethease report has a bunch of insightful information and it’s only $5. Still get the genetic genie report, because it offers a lot of insight on your MTFHR genes. Thanks again for the post!

  87. Hello. I am so glad I found this page. I was just diagnosed with MTHFR C677T/A1298C. My main question is: What B supplements should I be taking? My doctor recommended I start taking B12 and B6. Are there specific brands and dosages that you would recommend? I’ve been taking Deplin for about a month now and I’ve noticed amazing improvements with my brain fog and short term memory loss. I’m starting to focus easier and remember names and numbers again. I’m grateful to finally have answers (been searching for about five years), but now I don’t know what to do with this information. I am a 34 year-old female and healthy-ish (I appear to be a very healthy person but I feel tired, achy, unmotivated, and just “off” all the time). I exercise 5 days a week and maintain a low carb diet and still feel crappy most days. I’m wondering what foods and/or vitamins I need to stay away from. This is all new to me! Any help/suggestions/advice is appreciated. Thank you!

    • Hi Kristin,

      I was just diagnosed after having a stroke in my eye.

      I have the same mutations you do. My Dr. has me on B-12 and Methyfolate. It’s only been a couple weeks.

      My confusion is what can I eat and not eat??

  88. Mary Mondon says:

    Recently took the test Mthfr test and I have two single mutations: C677T/A1298C. I saw the doctor this morning and he gave me many sheets of paper on what the mutation means and on what to do and what not to do. Then told me to to take B12-2000. He told me to triple the dose that was on the bottle. Then he wants me to take a heavy metal test. I’ll be 64 this year and have Hashimoto’s. With so many things I have to do on a daily basis to manage a healthy existence, I sure need to make sure I experience life at the fullest to make it all worth it. 🙂

  89. I recently found out my daughter has the mthfr mutation. She is 18 and had previously been diagnosed with EE. As a result she has had multiple endoscopes. After the last one she had a really hard time coming out of the anesthesia. She is now supposed to have her wisdom teeth removed. I have read in numerous places that people with the mthfr mutation should not get nitrous oxide (laughing gas) but what about general anesthesia?

  90. Bretza R Thomas says:

    I have an extensive medical history although I just turned 53 doctors have told me I appear older than my stated age. I have Hashimoto’s Thyroiditis, chronic pain issues, adrenal fatigue, Cardiac problems, and have had episodes of anxiety and depression. I see many of the issues associated with MTHFR gene mutation in my children and my grandchildren. My siblings also, my sister informed me 2 months ago that she has the C667T mutation. We have been trying to just get the thyroid issue healed for so long it is such a long process and now I can see that it is much more complicated with this gene mutation also. Thank you for all the information I am now planning to get tested next week if not for myself but for my children and grandchildren.

  91. I am having trouble finding the right dose of methyl folate to take. Even 400mcg makes me beyond sleepy, almost a drugged feeling if I take it every day. Ben Lynch recommends folinic acid as an alternative to methyl folate. I can’t find much information on it. Will it do the same as methyl folate?
    thank you

  92. Peggy Hood says:

    I just found out that I have both mutations on the same gene. I’m just starting my research.

  93. Kristi Jones says:

    My baby, well 1yo now, has a stork bite & the blue vein on the bridge of her nose…is there any truth to those characteristics? Should I have us both tested? I had a healthy pregnancy but delivered 3 weeks early – she’s a very intense fussy baby.

  94. Barbara Simmons says:

    H,i As prescribed
    I take 25mg Methotrexate once a week on Thursdays.
    I take 5mg Folic Acid once a week on Mondays.

    What dosage of Methyl folate should I take to replace the once a week 5mg of Folic Acid.
    Many Thanks

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