MTHFR C677T and A1298C: Explained In Plain English

[Last updated 6th August, 2017]

All humans have certain genetic variations or “mutations” that can influence our health.

One of the more well-studied variations is known as an MTHFR mutation; more specifically MTHFR C677T and A1298C.

Unfortunately, not only is the concept of genetics difficult, but the terminology makes it even more confusing.

This article attempts to clarify what an MTHFR C677T and A1298C mutation is, in a way you can understand.

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What is MTHFR?

What Is MTHFR?MTHFR is a critical enzyme in the body.

It’s required for a metabolic process that repairs DNA, switches genes on and off, and numerous other important functions (1).

MTHFR is also essential to convert folate and folic acid – each a form of Vitamin B9 – into the biologically active form called L-methylfolate (or 5-MTHF).

Not to be confused with the enzyme, the MTHFR gene provides the instructions for making that MTHFR enzyme. In other words, it “triggers” production of the enzyme.

A mutation in the MTHFR gene may therefore affect enzyme function.
MTHFR ebook ipad

Summary: MTHFR is an enzyme with many important functions. The MTHFR gene triggers production of the enzyme.

What is MTHFR C677T and MTHFR A1298C?

A mutation in the MTHFR gene (also known as a polymorphism, defect or variation) can be passed down from your parents.

What is MTHFR C677T and MTHFR A1298C?


MTHFR mutations are actually quite common, and researchers suspect there are at least 30 different types (2).

C677T and A1298C are the most well-studied and tested MTHFR mutations.

This number and letter sequence refers to what is known as a single nucleotide polymorphism or SNP (pronounced “snip”). The numbers represent the base position, while the letters represent the allele.

This 2-minute 23andme video illustrates the concept very well and explains alleles:

Take C677T for example (also written as C677>T)

While a “normal” MTHFR gene would be C677C (c = cytosine), a mutation/polymorphism has made the gene C677T (t = thymine). Carriers of this T allele produce MTHFR enzymes that are less efficient, hence issues associated with an MTHFR mutation (1, 3).

Annoyingly, the gene can also be written with all letters placed after the numbers. So C677T and A1298C can also be written as 677CT and 1298AC, respectively.

Summary: C677T and A1298C are the most well-studied types of MTHFR mutation. They are known as SNPs, with the letters and numbers describing where they are and what they look like.

What Is Heterozygous and Homozygous MTHFR?

What Is Heterozygous and Homozygous MTHFR?MTHFR mutations are typically referred to as heterozygous or homozygous.

The prefix “hetero” means different.

The prefix “homo” means same. Zygous just refers to degree of similarity.

In genetics, hetero- and homo- refers to the two alleles on the gene. For example, for C677T the alleles are C and T, which are different and therefore heterozygous.


Heterozygous MTFHR means you have one copy of the mutant allele on the MTHFR gene.


Homozygous MTHFR mean you have two copies of the same mutant allele, which is considered more severe. It looks like this T677T, although it is typically just referred to as homozygous C677T.

So homozygous C677T actually means T677T.

Compound Heterozygous

There is also compound heterozygous, which is when you have one mutant allele on both the 677 and 1298 base position.

Summary: In genetics, hetero- and homo- refers to the two alleles (letters) on the gene. A heterozygous mutation means one copy of the mutation, homozygous means two copies.

List of Common MTHFR Mutation Variations

This brief list helps to make more sense of the entire concept.

Remember that the mutation can be re-written with both letters at the end (for example C677T = 677CT) or even just the letters with no numbers (for example CT or TT):

  • MTHFR C677C = normal MTHFR gene
  • MTHFR C677T = heterozygous mutation (one mutation)
  • MTHFR T677T = homozygous mutation (two mutations)
  • MTHFR A1298A = normal MTHFR gene
  • MTHFR A1298C = heterozygous mutation (one mutation)
  • MTHFR C1298C = homozygous mutation (two mutations)
  • MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation

What should I eat with an MTHFR mutation?

Get your free guide here:

Or click here to download the guide.

MTHFR C677T and A1298C and Homocysteine

MTHFR C677T and A1298C and HomocysteineOne of the biggest concerns for those with an MTHFR mutation is the effect it may have on homocysteine levels in the blood.

Homocysteine is an amino acid linked to a wide range of health problems, and is an independent risk factor for heart disease, stroke and other forms of cardiovascular disease (4, 5, 6).

It is naturally formed in the body, but gets broken down (recycled) by L-methyfolate (active folate). Said another way, a lack of L-methylfolate can lead to an increase in homocysteine.

Although diet and lifestyle are major influences, your genetics are thought to be responsible for between 45-60% of the variance in plasma (blood) homocysteine levels in normal adults (7, 8).

Of that genetic variance, C677T mutations are thought to account for between 24-53% of all cases (7).

Research shows that regardless of how much folate you consume, homozygous C677T (T677T) subjects always have significantly lower folate levels than heterozygous C677T. Subsequently, they also have remarkably higher homocysteine concentrations than everyone else; most pronounced when folate intake is low (9).

Folate vs homocysteine

Total plasma homocysteine (tHcy) concentrations according to daily folate intake. Black = C677C; Grey = C677T; White = T677T.

Other research confirms that both homozygous C677T (T677T) and compound heterozygous (C677T + A1298C) are linked with higher homocysteine concentrations and greater risk of heart disease (10).

It was concluded that a heterozygous A1298C mutation on its own does not influence heart disease risk.

Summary: High homocysteine is an independent risk factor for numerous diseases. Those with a homozygous or compound heterozygous MTHFR mutations are more likely to have elevated homocysteine and greater risk of heart disease.

Which MTHFR Mutation Is A Problem?

Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health.

Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (3, 11).

MTHFR mutations that have the greatest influence on health are:

  • Homozygous A1298C (C1298C) and homozygous C677T (T677T)
  • Compound heterozgous A1298C + C677T

Compound heterozgous is considered the most severe or “at risk”, but it is thought that homozygous mutations can inhibit MTHFR enyzme function by up to a whopping 70% (11).

Remember that MTHFR mutations don’t directly make you unwell. But they may cause an exaggerated response to poor diet or lifestyle choices that others can “get away with”.

This is why dietary considerations are fundamental for certain MTHFR mutations.

As the saying goes, “Genes load the gun, environment pulls the trigger.”

Always consult with a Dietitian or health professional who can give context to your results and specific situation.

MTHFR ebook download

Two of the most studied genetic defects are MTHFR C677T and MTHFR A1298C. This article attempts to clarify what they are, in a way you can understand.


  1. Micki Keklikian says:

    Is a fasting check on homocysteine level the most accurate? Wouldnt a blood draw without fasting be a more accurate check on how I am processing folate/folic acid? I have homozygous C677T but fasting homocysteine levels are within normal range. Doc says nothing more needed. Really? Thats all there is to it?

    • Hi Micki,

      Blood tests for homocysteine (fasting or not) are the standard way to measure.

      What number in the normal range, higher than 13?

      If your homocysteine level is good, then you likely don’t require anything else. Pregnancy warrants extra concern however.

      • Nikki Pritchett says:

        Can you tell me what it further warrants? I am homo 677, (so T677T). I have had 2 miscarriages already, always at 6-7 weeks at age 31. I take methyl B12 1,000 mg day, methyl folate 1,000 mg day, and an aspirin a day, but I still feel as though I am lacking majorly in energy. There are some days I am exhausted……. Can this undermethylation process be making me more tired than normal!!? And is there anything that I can take to help with this such as herbs and supplements? Also, this may seem really weird, but I can FEEL when my homocysteine is up, it’s almost like my body feels so heavy as though my “blood pressure would be up” but it’s not…… I just feel heavy draggy and unable to think and process thoughts at times…… Miserable.

        • Hi Nikki I’m really not sure, it’s so hard for me to say without having seen you in person and considering your medical history and dietary habits etc.
          Low vitamin B levels most certainly causes feelings of fatigue, but it could be other factors in your life also. The only thing that comes to mind is ensuring your vitamin B2 and B6 levels are also adequate, as they play a key role in the methylation cycle too.

          • Hello,
            I’m homozygous 677T too. I’ve had 7 blood clots, 2 pregnancy losses, midline birth defects, 2 children with autism and also have autoimmune issues.
            Have you cut out enriched foods? We stopped eating all of it when diagnosed. It made the difference for me. I blamed the brain fog on hypothyroidism but I don’t think that was everything.

        • Dr. Chris Carter says:

          Always have to check mitochondrial function along with MTHFR. The mitochondria produce the vast majority of ATP for all of our cells with the exception of red blood cells. Polymorphisms in any of the 5 protein complexes in the mitochondria will result in decreased productivity of cellular energy potential. Plus mothers are the ONLY donators of mitochondrial DNA. We all receive our mitochondria from our mothers. Feel free to contact me for more information if you like.

        • Dr. Ben Lynch says to take electrolytes with the folate, B12 and B6. Also, he says to take co-factors. Dr. Ben Lynch – Seeking Health. He’s on Facebook too.

        • Hi Nicky,
          I blood thinners + aspirin deplete Vitamin K. Garlic can be used instead for thinning blood – panadol for pain.
          Low Vitamin K effects kidney & liver function. Then the auto immune desease start. Basil is a good form of vitamin K or K2 supplement. Will not work unless you have enough Vitamin D.

        • James Sheldon says:

          You’re probably not taking 1,000 mg of methyfolate, you’re probably taking 1,000 mcg (micrograms) of methafolate per day, or 1 mg.

      • You Wish says:

        “Likely don’t require anything else?” Joe could not be more wrong. Even though you only inquired about 677T, there is far more to MTHFR than just that! There are a number of different genes that all need to interact, and deleterious alleles in any of them can cause problems. For example, if the methyl form is not working, you may require a hydroxyl form, depending on other parts of your genetic makeup. It is possible that taking your B12 orally might not work. You may require regular shots, either of the methy- or hydroxy-.

        There is still much to learn about these MTHFR genes. Detoxing from some substances may be more difficult, which could affect your tolerance for certain medications. Males with the A1298C may be “shooting blanks,” and if they are not tested then having a family could mean spending hundreds of thousands of dollars in fertility treatments, where instead the appropriate vitamin may do.

        Gina- your psychiatrist is wrong. You should be getting B-12 shots, and the cyanocobalamin ones will not work. Ask your psychiatrist about Acetyl-L-Carnitine for your mood. If the psychiatrist knows nothing of it, then ask the doctor to please find out and be prepared for your next session. Adequate Omega-3 in relation to your Omega-6 intake is also essential for mood and brain health. MRSA- good lord! I hope that you are getting workers comp for that! If you still have it, then either the doctor’s didn’t try everything, or didn’t try it long enough, or didn’t try it at the right dose. There are some essential oils that have action against MRSA. I can’t recall which ones. Caution is required with those, too, treat them as seriously as medication. Go to a state tax-supported university. They must allow you as a taxpayer to use their libraries. There, you can dig into the latest research databases. Do not be surprised that your doctors are too busy working to be aware of anything new in recent decades. Some are open to the articles that you bring in, others are not. If not, fire them. Anyone who does not want to learn cannot help you.

        Melissa, ticks rarely transmit Lyme Disease alone. The whole concept of “Post Lyme” is ridiculous. Either the infection was wiped out (not likely under CDC guidelines), or it was not, and/or there may be other infections. A recent study showed that Lyme tended to re-emerge about a year after treatment, less virulent so people are less ill by it, yet it also is harder to kill because they are only vulnerable while reproducing, and they don’t do that very often. You can address this yourself, slowly, by using stevia. The study that showed stevia extract getting through the Lyme biofilm and killing it used the Sweetleaf brand, so that is the only kind I would suggest. Start slow!! Sounds like you also should be evaluated & tested / treated for bartonella, babesia, and over a dozen other possible infections that you may have been given along with the Lyme Disease. Some of these are also contracted other ways- such as through your pets. Cats and dogs transmit them. What you are experiencing is not normal; please get to a specialist in vector-borne diseases while your brain is still allowing you to figure that out and work, etc.

        I believe that you mentioned concerns about candida. Start using some cilantro in your food, bit by bit. If you do have excess candida, then killing them makes you feel worse at first, as their toxins get released. I had personal experience with that one and it was tough. I had a very restricted diet- no sugar or starch, wheat, etc., and when I did eat I knew those buggers were benefitting from the food. So, I’d eat, then after a bit hit them with some nystatin while they were dividing and vulnerable, and then after a bit I’d chase that with bentonite and psyllium to clean the whole mess out. Then, I’d take a probiotic and any vitamins on my regimen. It worked. In my case I had to be aggressive and it was worth it. Another family member just took the nystatin like a proper obedient patient, and to this day, 10 years later, still has a candida problem. Good luck to you, you can get through this if you get to the right practitioners, learn enough to figure things out like the timing above, and get moving on it right away.

        • Thank you. That’s excellent advice. I, too, have been fighting a fungus, using Solaray Yeast Cleanse, Detox-ND, various high-quality (I hope) nutritional supplements, Traditional Chinese Medicine, low-carb diet, etc. What you did makes sense. I may alter my approach.

        • Hi “You Wish”. Wow, reading your reply, I heard so many things I never knew before. You are so educated, and beyond the typical textbook knowledge. I hope you legally practice medicine somewhere out in the world, so you can help people out there! Good luck to you! 🙂

    • I’ve just found today that I have the homozygous C677T (T677T) gene. Interesting that the Naturopath I started seeing two months ago for a devilish rash had started me on a supplement that includes iodine and other trace minerals, as well as Detox-ND and a methylated folate. From what I can tell, you absolutely do need to take many steps to avoid toxins, clean up your environment and your diet, eat certain foods, rest, use foot baths, do everything I can to improve my gut (read latest microbiome research) and so on. Luckily, I was diagnosed with gluten sensitivity several years ago and started regular care with a Traditional Chinese Medicine doctor (one who was a doctor in China). Both parents lived to 95 and only developed dementia in their late years eating foods I wouldn’t dream of eating since I was about 58. I do wish the same–or better–for all of us! I’m so glad I know I have the mutation so I can take good care of myself.

  2. Hello, I’m searching for answers because general physicians seem to blow off my symptoms because my blood tests come back normal. I went to a nutritionist that said I needed to be tested for MTHFR mutations and I am positive for one copy of C677T and one copy of A1298c varient. I am compound heterogenous for the variants. The only advice I received was to take folate ( metafolin L-5 methyltethydrofolate) 800 mg with B12 1mg. I take one tablet a day. I don’t know what else I need to do to feel normal. I have chronic fatigue, depression and panic attacks. I’ve gone to doctor after Doctor and they do not have answers and when I tell them I have these mutations they blow it off. I was told by the nutritionist that made me aware of this genetic mutation to maintain a gluten free diet and when I do I feel better energy wise but the anxiety and depression doesn’t let up. I am not celiac so my general Doctor says there is no reason for me to be gluten free. So with my own research I’m seeing that I shouldn’t be eating foods fortified with synthetic folic acid so it finally rang a bell that maybe this is why gluten free helps me. Please let me know what type of physician is open minded to guiding me with lifestyle and supplement changes for this mutation. Also is the one tablet of the supplement enough. I’m desperate to feel healthy. Even my psychiatrist doesn’t acknowledge this mutation. He thinks it’s unrelated to my symptoms. Any suggestions will be greatly appreciated. Also, is this mutation combination one that can cause the symptoms I suffer from? Thank you🙌

    • You should minimise (greatly) your intake of wheat flour. So that’s conventional bread, cakes, biscuits, etc. They are fortified with folic acid.
      Plus they are not nutritious foods in their own right.
      Gluten is not the problem though (unless you have an autoimmune condition), and is not related.
      How long have you been taking that supplement? Assume you mean 800 mcg.
      It’s hard for me to give more advice, the conditions you describe (espec the mental health) are dependent on many other lifestyle factors too.

    • Dr. Amy Yasko and Dr. Ben Lynch study this issue extensively. There are others that can meet through Skype. I found a local functional medical practioner thqt helped me overcome my issues. I’m hetero C677T. No synthetic folic acid.

    • Marilyn Campbell says:

      My daughter has the double mutation and has suffered from depression her whole life. A little over a year ago she had DNA testing done on the suggestion of a psychiatric nurse practioner, sswhich showed the double mutation. She takes 15,000mcg of Deplin (folate in its pure form, NOT folic acid!). every day. The change is a miracle. Insurance doesn’t cover it because it’s considered a food supplement. it runs about $60/month.

      • Alexa Zajecka says:

        I have the TT mutation and have been on Deplin for 2 years now. It’s a night and day difference. I feel more alert, less depressed, and less anxious (though all of these symptoms come back occasionally). My mom is CT; she insists she doesn’t see a difference when she takes Deplin. Once this supply runs out, I’m considering switching to a generic brand which are significantly cheaper. I’m glad your daughter is doing better!

        • Michelle methylfolate question says:

          Is anyone aware of an over the counter form of methylfolate. I am currently on deplin, which has helped. At one point the doctor swithced me to enlyte but it only has 7.5 mg and deplin was 15. Althought enlyte aslo has vitamin B. Enlyte was not effective for me (most likely because of 1/2 of the active ingrediant. I have the MTCHR C677T. My primary diagnois is CRPS/RSD however all of my physicians believe there is some time of autoimmune disease starting. I also am being screend for sjrodens (as my mother has it).

          I asked my mother to be test for the mutation is she has the same one I do. Her homocysteine levels are “slightly” (as far as she tells me because her doctors don’t believe in it and actually told her to take high doses of folate. My Mom’s Dad died very young due to heart attacks and strokes.I was ready to pull my hair out. Ironically, recently my mother has also been diagnosed wtih CRPS/RSD. I truly wonder if there is a relation as it’s a “rare” chronic pain disease.

          I also wonder if my sister has it but she can’t afford to get tested. I asked my holistic neurologist if anyone (even if not taking) can take methylolate and he said they could. So she is also not able to get a prescription and her doctors will not test her. I think she has it for several reasons.

          My question:
          1. Does anyone know a reputable and effective over the counter form of methylfolate?

          Being that my mother’s doctor won’t write her a prescripion and thinks it’s hokey. But aso obviously is not familiar with it since he instructed her to take folic acid if she really wants to. He is not doing anything about the homocystine levels. I am concerned about her with now several immume diseases. And my sister having several issues and can not afford to be tested. I am also unemployed so I’d like to see if an over the counter version is available and as effective as deplin?

          • I order Methylfolate for both me and my daughter from Her doctor told us about it.

            • I use Methyl pro also. 5mg and I am very pleased with the results!

              • Shelby Talerico says:

                Thank you so much for sharing that information. My husband and i have been searching for a place to purchase a non-chemically produced version of Deplin. We like the results, but cannot afford the price and one of my Neurologists does not like the other chemicals included in the fabrication of the drug. He has an all natural site, however, it is quite expensive on a school bus driver’s hourly pay check. So thank you kindly for this site! This product too is all natural, with it being just the Methylfolate and the one other base ingredient.

          • purpelnoon says:

            Thorne Research makes folate in 1mg, 5mg, and 15mg. You would need a licensed health care professional to get it for you though.

    • Laurie Brown says:

      Can I ask you a strange question. I have the exact same MTHFR mutations as yourself. Do you have breast implants? I had a lot of trouble with my dental products which helped significantly, but I am still having some problems and I believe it might be my breast implants? The suffering of chronic fatigue and just not being 100% is so frustrating.

      • Hello. Did you say that you were heterozygous For C677T gene mutation and were hving issues with implants? I’m just now finding this site and the same thing is happening to me plus other debilitating symptoms.

      • machel Borsum says:

        Hi Jenna I see this is an old Post but Yes the Implants cause BII there is facebook groups with hundreds of women ex-planting daily. I ex planted on June 21s.

    • angela eisenhauer says:

      Hi Gina, I am in exactly the same “”boat”” as you. Except I have been on antidepressants, on and off, with disastrous consequences for 20 years. Off all of it now, and realise, I believe, my only mental health/exhaustion issues are because of low B12. (Compound hetero, like you). Also, check your CYP ………. I havent yet, BUT I KNOW I have this, due to all the horror side effects from ADs etc, that need this enzyme, that I dont have. I now am going to avoid any of that synthetic folate. I stupidly took it for five pregnancies, and had two heart defect babies. Oh, how they mess with our food. Find me on fb if you wish.

    • You can find organic flour Bob’s Red Mill and oats…take your L Methlfolate NOT man made folic acid! And eat lots of greens. Avoid all fortified foods.
      Take plant based Co enzymated vitamins like Emerald Lab make, get plenty of probiotics for your gut…avoid metals! Talk to your doctor about all your medications.
      You will feel tons better!

    • I have one of the copies for both C677T & A1298C.
      I believe I have some sort of anxiety issues that make me panic whenever there’s something on my skin, or if I have a terrible headache, or if my hand and foot go numb…there’s always something. I always have to see a doctor for something different…I now have gastritis, so I have to have an endoscopy done…to get the right treatment. I’m always afraid that I might have a serious disease. I tried talking to several doctors and nobody seems to understand.
      I have a horrible thin hair, aging hands and feet, very dry atopic skin…and I’m only 33…
      My husband’s patience is not unlimited….I’m afraid this situation will create some sort of distance between us.
      So, if I cannot process both the folic acid and the B12, what can I have as a dietary supplement?
      I’m also CVI. Never had any sort of issues with my pregnancy.

      • best to get to a very good alternative MD and/or a naturopath. Keep looking and trying them – they are out there and you learn a bit from each one. Even if it is tiresome to not find ONE person with all the answers. I say this as you need someone who knows their stuff to check your thyroid as the thinning hair and dry skin make thyroid something to check. adrenals were a big area for me. Bodies are very complex. so don’t stop at just the MTHRFR business, and get a good workup with a good alt doc.

    • I have the same mutations as you – one of each, hetero. I take 5HTP, a complex B vitamin, as well as lots of omega fatty acids, with a high protein shake every morning (Garden of Eden greens protein). I struggle with the same things you mentioned – fatigue, depression, anxiety, panic attacks. I quit drinking alcohol, which affect your neurotransmitters for weeks with even one single drink. I did the Whole 30 – which was really hard – but when I am on Whole30, every single one of my symptoms go away (when I continue taking 5HTP, not the protein drink). I hope this helps! Feel free to reach out.

      • Oh and I also recommend two books (not specific to these genetic mutations but health/brain/gut connection): A Mind of Your Own and also the book Silent Takeover. Great reads.

    • I have an 18 year old with the homozygous C677T mutation, as well. He suffered from chronic depression. He now takes 15mg Deplin (methylfolate), as well as 5,000mcg Methylcobalamin (active B12), 25mg P5P (active form of B6), and a B Complex vitamin. Remember, 1,000mcg = 1mg. I pieced together the combination of vitamins through countless hours of MTHFR online research. My son is doing so much better. He has come out of the darkness he had been living in for too long, Most physicians are still uneducated about MTHFR. Stay hopeful and read everything you can get your hands on.

  3. Jolinda Crocker says:

    Is this related to the gene 15-6-51 in any way?

  4. Hello… I believe I am compound heterozygous (C677T & A1298C) but I am awaiting confirmation from my doctor since my genetic mapping report wasn’t very clear. I have Hashimoto’s thyroid disorder and I’m currently hypo. I have “chronic Lyme disease”, which I realize CDC doesn’t acknowledge. I am also aware that the bacteria-like spirochete responsible for Lyme disease (Borrelia burgendorferi) was the catalyst that started my illness by triggering latent viruses (specifically EBV which has run amuck causing so much damage in my body). This disease is better described as “Post-sepsis Immunodeficiency Syndrome”. My CD57 is so low, it barely registers (less than 20) and I no longer produce antibodies. I have white lesions on the right frontal lobe of my brain, chronic pain and I do mean 24 hours a day of severe joint/neck/shoulder/back pain, bone crushing fatigue, plus many more symptoms. I have 2 genetic mutations within the mu opioid receptor density pathway (COMT G/G, VAL158MET & OPRM1 A118G). My cells block the effects of opioids and most of the medication is sent off as waste versus broken down and used. The OPRM1 mutation also causes increased pain sensitivity so basically I feel more pain with little to no relief from opioid narcotics, unless I take large doses. I am currently recovering from my 3rd outbreak of MRSA in 4 months (I contracted MRSA from a student in my classroom in 2009), so I’ve been on 30 mg, 2x per day, of Clindamycin, which is tearing up my gut and making me crave sweets. I am think I probably have yeast overgrowth in my stomach and/or intestinal tract due to the antibiotic. I have been gluten free in the past but I’m negative for Celiac. I will say that I do feel better being gluten free but I miss “the good stuff”, so now I eat the naughty food in moderation. I currently take 400 mcg of Methylfolate and 1000 mcg of Methyl B-12. My doctor just changed my thyroid medicine from 2 grains of Armour per day to 2 grains of Nature- Thyroid per day, with the intention of increasing another half grain in 4 weeks. The exhaustion can be debilitating most days. I’m a special education teacher and I’m currently working in a elementary school, so there’s quite a bit of physical activity involved. Would you recommend raising either the methylfolate and/or the methyl B-12 if I’m still experiencing this level of fatigue after a few weeks at increased level of 2 1/2 grains of NT? Given my complicated health issues, do you have any general advice or guidance for improvement? Thank you!

    • Hi Melissa,

      Your case is complex, so much so Idon’t feel equipped to give you good advice online!
      There are so many aspects that can affect fatigue, you have to work with your doctor.
      For the record you should raise mthylfolate and b12 together, not methylfolate on its own. But again you need to to do this with your doctor.
      Sorry I cant be of more help.

    • I recommend to get biochemical testing through Dr. Yasko will comment on the supplements you need. There is so much more to it than B12 and methylfolate. She’s expert in seeing the connections, and can give you more specific advice based on the tests. You still need to work with your doctor, but she doesn’t charge for her notes. She’s a researcher. Best luck to you! It’s helped us great!

  5. Hi,

    I have 2 copies of A1298C and my daughter has one of each C677T & A1298C.

    Fatigue, EVB, Pre-Everything, Lyme, CFS and of course when these so called docs don’t know they tell you have Fibro………My daughter comes up with it all. I think that getting to the root of the issues is key considering our bodies run on minerals and after speaking with at least 4 or 5 docs they have NO clue about the Minerals in our bodies……

    Me: Blood disorder (Pre Cancerous) among other issues, high TPO numbers and an Onc doc says that doesn’t matter it’s the TSH number. I think he is Wrong!!!!

    We also had a HTMA done and we are toxic in some minerals and lacking in others. We are going the Magnesium route, foot soaks, supplements etc. We don’t have a clue of which B12 to take. We take Bee Pollen for the other B Vitamins. What foods to eat well that’s another story.

    I am Copper DysRegulation and my daughter is Iron Overloaded and Copper Low. We have horrible insurance that doesn’t cover any other type of doc and the Western Med docs don’t have a clue about much! I know we have to raise our Ceruloplasmin levels otherwise we feel lost.

    My daughter wakes up Every morning with anxiety and panic and shortness of breathe and heart palpitations and I mean Every morning. Not sure if it’s the Iron, the MTHFR. We use essential oils to clam her and sometimes it takes almost 30 min for her to feel normal. She is pre Everything. It’s just the 2 of us and this is so much to deal with.

    Thank you for taking the time to read my post.


  6. I also wanted to add that by taking a Vitamin D supplement all you are doing is storing FAT in your liver which can take 4 years to get out of your system. I think the best way to get the right ratio of A & D is through the right Cod Liver Oil. There are only 2 with the right ratio.

  7. Laura Willis says:

    I am A1298C hetero. My doctor has me on Folpex 2.0. (Gynecologist- I had recurrent miscarriage). I have iron deficiency (treatment: ferrous sulfate 325). Is there a better supplement for me to be taking? I have depression, fatigue, and can’t seem to lose weight through diet and exercise. I’m preparing for an appointment with my GP. Thanks so much for some advice!

    • You can ask the gynecologist what they think of l-methylfolate instead of folpex. But that needs to be taken with vit B12 too.
      But hetero A1298C most likely not causing you big problems.

    • cindy Anderson says:

      If this helps..I drink a glass of orange juice with the iron supplement and it has helped tremendously with absorption and energy levels as well. Plus, it seems to help somehow with a detox in the body.

    • The best iron supplement I’ve taken is Apex Energetics Hemevite. My numbers were in the right place after just a month. During a pregnancy I was anemic and the liquid iron I was on made me feel poorly and stained my teeth. I haven’t had any problems with this one.

  8. cindy Anderson says:

    I am looking for a little more clarity to heterozygous mutation on MTHFR 1298C. I was just tested by my oncologist due to low levels of iron saturation, (below 15%), insominia, tired, weak, easy bruising, and low ferrate in my blood. I also had a high gamma globulin rate as well, which is pending to see if I have an m-soike… Does this mutation affect my ability to produce healthy levels of iron and RBC..or is there possibly another underlying cause?

  9. plz can u help me i’m lebanese and i’m heterozygous c677t what should i do cz here the doctors not explaining anything and before 2 years i have birth and my daughter 2 months have cancer and she died plz i wanna know if this causes health problems to me and wanna know if there is a risk too if i decide to be pregnant and have a baby i had 2 x miscarege also so plz help me 😒

    • Hasmig,
      Firstly , I am so very sorry for the loss of your child- there is no greater sorrow. on earth. My prayers go out to you and your family.
      On MTHFR – I am new to this but I have followed the advice of Naturopath ” Dr Ben Lynch” . He has developed a web site for MTHFR support. I find his advice to be very clear and easy to follow. His advice has helped me. He is very knowledgeable on this condition. He is seen by many as a specialist in MTHFR, and is trying to educate other doctors on this mutation and treatments that have worked to assist with the problems it presents. He also has youtube videos. Here ia link to his suggested protocol for heterogenous C667T. He mentions pregnancy issues in the notes .
      I hope you find the information to help you
      Again so sorry for your loss

    • Sorry to hear Hasmig. Complications of unmanaged MTHFR mutation (and low folate) is miscarriage, but no link that I know of for any types of cancer. You could ask your doctor to test homocysteine, this can give a good clue if your folate metabolism is affected

  10. Cathy Daniels says:

    I am homozygous for the mthft c677t (T/T)
    and have normal or wild type A1298c (A/A)
    My homocysteine level is 8.
    My doctor has suggested Xaquil XR and recommeded at B12 (methylcobalamin.
    Your thoughts on supplementation he suggested

  11. I am compound heterozygous based on a genetic test I took. I don’t seem to have any symptoms of anything though. I wonder how likely it is that other genetic variables we have not yet discovered could influence variable experiences. I regularly exercise, have a halfway decent diet (though there is occasional “junk”), and don’t feel like I have any less energy. I am nevertheless curious by this finding though and want to look into research articles to the extent that they have been published on this matter. Are there a plethora of articles on PubMed?

  12. Hello. I have C677T Mutation with Normal homocysteine levels. I have Family history of schizophrenia and personal history of schizotypo personality disorder.

    I have fatty infiltration in my liver with elevated ALT & AST but no fatty liver dz. I have a chronic elevated IGG4, and severe allergies, recurrent small bowel bacterial overgrowth, nausea, chronic fatigue, proteinuria and hyperlipidemia.

    My heritage is Hawaiian, Chinese, Mexican and mix European (Cocktail I know).

    I have discovered these conditions with little help from my primary care provider or any other doctors.

    I put myself on 5-MTHF 1mg, B-Complex, Juice plus, mens health multivitamin (minimal folic acid) and marijuana oil.

    I also take Thrive supplements and since have shown overall improvement.

    My question is should I be doing more. I have been looking info clinical trials for research and have hit a road block. Please let me know if you have any advice

    • Hey,
      The link between b-vitamin deficiency and mental health is interesting.
      You’ve been very proactive, can’t say I have any other recommendations at this stage.
      You must be extra careful with your 5-MTHF dose, keep it low. Because I know those wth bipolar can have severe “reactions” to it. ie mood shift can be dramatic.
      I am unsure about any possible side-effects on schizophrenia, but I appreciate they are quite different.

    • There is a great and very helpful little book from A. Hoffer: ” Orthomolecular Treatment for Schizophrenia.” It only costs 7 $ and it is really worth the money and can be extremely helpful to those with bipolar disorders and schizophrenia.

  13. Angela Townsend says:

    I just had a Genesite test which said i am homozygous for the T allele of C677T polymorphism in the MTHFR gene. I took the test to find out which medications metabolize for my depression and this result was also in the test. My psychiatrist told me to take twice the recommended dose of folate and come back in 30 days. I metabolize well all of my prescribed medications.

  14. I have the compound mutation, and found out about it after being tested by a specialist during pregnancy. I am wondering if this could have any effect on why I am unable to gain weight?

  15. Can anyone please tell me what these results mean….

    Mthfr methethylenetetrahydrofolate reductase-

    Result: c.665C>T (p.Ala222Val)(historically”thermolabile”,C677T):
    HETEROZYGOUS c.1286A>C (p.Glu429Ala) (historically A1298C):

    INTERPRETATION: The above genotype is unlikely to have clinical
    significance. Our interpretation is based on the current
    understanding of MTHFR genetics and clinical correlation is

    I’ve had other abnormal blood tests such as low protein c activity and elevated factor 8 assay. I’ve had a DVT in my calf and they think or thought it was from birth control pills, so I’ve been off that for almost a year now. I get tingling sensation in my calves at times. I just want answers, because this is scary and should be taken seriously.

    Thank you!!!

    • I was just diagnosed with the same as you..Can you tell me what it means? And what your doing for yes. Thank you.reesey..

  16. I’m trying to understand the above based on my daughter’s test: positive for 2 copies of the A1298C variant. Homozygous for the A1298C variant and negative (normal) for the C677T variant in the MTHFR gene. Is there a concern and what should we be doing? I currently have her (8 years old) taking 400 mcg of Biotics Methylfolate Plus.

    I tested positive for 1 copy of the C677T variant and one copy of the A1298C variant. Compound heterozygous for the variants C677T and A1298C in the MTHFR gene. I have high histamine levels. Do you have any recommendations?

    She and I both have lyme disease, food allergies and issues detoxing as well.

  17. Tracy Daly says:

    My son was born with Down syndrome and recently diagnosed with autism. He has A1298C + C677T mutation. Can you PLEASE let me know if this has any impact on getting him his immunizations? The school district is going to stop him from attending school if I dont vaccinate him. I don’t know enough about this to know for sure if it is safe for him….. do immunizations have metals in them as preservatives which could be harmful to him?
    Thank you for your time
    Tracy Daly

    • madison leon,smith says:

      My daughter is 18 years old, she has never had immunization. Before she was born
      I study law and if you say this, the school has got to let your child go to school.
      Tell them that ( it is against your religious conviction and beliefs to take immunization )
      They cant discriminate against your religious conviction and beliefs, they would be in
      violation of the 1964 civil rights act.

      • Tracy daly says:

        Thank you so much for your response! Unfortunately the state and schools are getting wise to people playing the religious card! Now– you have to go to a board hearing and answer specific questions about your religion! (Pulling quotes from the Bible is your best bet! IF they think your trying to get away with it, they will refuse it!! I’m dr has found preservative free vaccines- since it’s the metals he can’t get rid of, I think this is my best bet!! 🙁 thanks again!!!!!!!!

  18. Hello,

    I am Heterogeneous for A1298C and have elevated homocysteine levels. I tried L-methylfolate in the past, but it cripples me with very severe joint pain. I’ve suffered from gout for about 15 years.I’m pretty sure my high levels of uric acid and the gene mutation are also connected. Is there an alternative to taking L-methylfolate as a supplement that won’t leave me incapacitated? Any advice would be greatly appreciated. Thank you !

    • I stopped the methyl folate for a week and increased liquid omega 3 doses. Then I added the methlfolate back in gradually. The 2 need to be balanced.

  19. wow.. this site has been very informative. I have been searching for over 10 yrs to find what on earth was wrong with me . I googled Doctor Mercola and saw the interview with Doc Kalish and found a practitioner in my country to speak to , which in turn lead me down this path. I have the homozygous A1298c . made so much sense to me and all my symtoms. I will be getting my daughter checked also. This is the first time i have had real answers, so i do hope I can improve from here.. Thanks Joe for your site ;))

  20. HI, I am homozygous. I also had a kidney stone removed in April of this year and another removed in 2015. Before I had the kidney stone last year I was eating lots of foods with folate in them, which create oxalates in the kidneys. What diets would you recommend?

  21. Hi…I just had two back to back miscarriages…I was diagnosed by my obgyn that I had homozygous C677T MTHFR mutation. He tested my Homocyst(e)ine levels and came back normal…I’m completely scared and lost as to what is wrong with me…what do you recommend to take or do? Does having this mutation affect me having a future healthy pregnancy/baby?

    • CPG,

      I’m in the same boat. I’ve switched my prenatal to something that has the active form of folate (L-methylfolate) as opposed to folic acid. I’ve also added a daily methylfolate supplement and a baby aspirin. There are many women who have the homozygous C667T mutation that go on to have healthy babies. Fingers crossed for both of us!

  22. Hi- I found out at 23 that I have MTHFR C677T gene mutation (heterozygous). I’m very healthy and have never had any problems (at least not that I’m aware of). I guess from the article I am not quite sure exactly what kind of issues the heterozygous mutation could cause? I currently take- prenatal vitamin, B12 sublingually, and Fish Oil. Are there any other supplements you recommend? I am now 28 and am going to try and start a family– should there be any concerns? I’ve asked my doctors about it but no one seemed worried about it so I didn’t worry about it until I started thinking I wanted to have children. Thanks so much for your time and help.

  23. Todd Bouldin says:

    I am MTHFR T167 and was told by nutritionist to eat leafy greens to acquire more folate. Yet, I took a couple of online analysis inventories which used my info, and these told me not to consume folate or folic acid. I am confused. Do I need folate through leafy greens or not? Is there some other factor that it is considering?

  24. Mohd Sufian says:


    My name is Sufian. I’m from Malaysia. 6 months ago I tested for MTHFR mutation. Here is the result:

    677C>T : Normal
    1298A>C: Homozygous mutant

    What does this result means? Do I have MTHFR C677T Mutation even though it stated there normal?

    Appreciate your advice here as doctors in malaysia are not familiar with this. Please help.

    • These are two different genes. Your result shows two normal normal copies on one set of genes (MTHFR 667), which is a good thing for you. Your other set of genes has two defective copies (MTHFR 1298).

      This is a very good basic explanation here:

      “Homozygous A1298C (two bad copies) can also be written as C1298C (because there are two abnormal copies with C instead of A). Occasionally you’ll also see it written 1298CC”

      “Homozygous MTHFR A1298C (C1298C) have about 65% normal activity (so 35% compromise). Normal activity refers to the way your body converts folic acid to 5-L-methyltetrahydrafolate (the active form) so that it can be used. Compromise in this case looks like a folate deficiency.”

  25. thank you for this article. I recently found out I am compound hetero. i used to struggle with fatigue. ever since I began taking low dose naltrexone, i don’t struggle with fatigue. I don’t have tons of consistent energy, but I feel a lot more like what imagined “normal” to be. my “bad” cholesterol is a little on the high side. researcher Ray Peat has some interesting things to say about “bad cholesterol”. after following his research for a few months, I like what he has to say. that said, my father has had multiple TIAs and probably one significant stroke. there is not heart disease on mom’s side of the family. my father is still in great shape for 90 and hasn’t had a stroke or tia for 3 years. 3 years ago, i took him off his statin drug (atorvastatin), the prostate meds (flomax and the little blue one that blocks testosterone uptake and helps guys not go bald), the blood pressure meds, and the antidepressant. I give hime a lot of magnesium, msm, milk thistle extract, and vitamin C, as well as a multivite. he also gets DMSO on his knee, shoulder, and abdomen a few times a week. he takes colloidal silver to prevent utihe’s got a healthy heart, healthy liver, healthy lungs, healthy kidneys, fairly healthy eyes, all of his teeth, a healthy digestive tract (needs a little help staying regular) and a full head of hair. he also doesn’t get sick nearly as often as those around him. i wonder if something I am doing is lowering his homocystein levels. your thoughts?

  26. Hi. My 9 year old son is hetero c677t. ( I think that’s what the blood test came back as) He displays with ADHD inattentive type and also mild ASD tendencies. None of these have been officially diagnosed. His primary issue is focus and attention at school. He is very social and talkative, just a bit quirky. I would like to know what I should do for him to help him.

    • I have two children (10yr old son, 12yr old Daughter) that were both diagnosed at the age of seven with ADD. My daughter is inattentive and my son presents as hyperactive. My bloodwork just came back and I’m also hetero c677t. I’m wondering if my diagnosis could be the cause of both my children having ADD? This is all new to me as well. I’m 42 and have been sick pretty much my whole life. Eighteen major surgeries to be exact. Allergies, asthma, severe anxiety disorder, depression, IBS, and the list goes on. More bloodwork from my GP had been ordered but she admits to not having a whole lot of knowledge on MTHFR. Hopefully she will be able to locate a doctor that has an understanding of MTHFR that I can talk to. I’m also wondering since I have the mutation of I should have my children tested as well?

      • Yes, you should have your children tested because the MTHFR mutation is a genetic disorder, so you possibly passed along the defect to one or both of your children:

        “If you find out you have an MTHFR mutation…It’s a good idea to check your kiddos too, or just switch them over to the methyl forms of B vitamins.”

        Without any testing, the easiest thing to do for both yourself and your children is to make sure that if you take any supplemental vitamins they do not contain any “folic acid” in them. Also, do not eat any foods enriched or fortified with folic acid, which is almost all white bread, pasta, cereal, boxed foods etc. Then, when you visit your doctors, they can instruct you on how much methyl-folate (not the same as folic acid) and methyl-B12 to include in your vitamin regimens.

  27. Hi. I’ve just got my blood test results back & they say “Detected Heterozygous” for MTHR C677T & MTHR A1298C. What the heck does this mean?! My doctor had no idea….a naturopath advised me to get this test due to my exhaustion, irritability, not being able to lose weight etc. Any help would be greatly appreciated. Katherine

  28. I use Daily Essential Nutrients supplement if you are in need of a methylfolate supplement that is balanced properly to not create a reaction (and to help calm)

  29. I have a 4 year old daughter with Spina Bifida. I got the MTHFR test done and shown to be C677T heterozygous mutation. My doc doesn’t know anything and I can’t get in to see a genetic counselor for months. What exactly should I be taking? I want to conceive again and am at all costs trying to avoid another defect. I have no other health problems or diagnosed disorders. Do you need a prescription based folate or B12 or over the counter. What is available?

  30. Lorna Cloud says:

    This is what my results said: This individual is homozygous for the A1298C variant andnegative (normal) for the C677T mutation in the MTHFR gene.This result is not associated with a significantly increased risk for coronary artery disease. I don’t really know what steps I need to take from here. My doctor really didn’t discuss it with me, he just wrote it on my report.

  31. Jessica Poole says:

    Hi, I really need some clarity and direction with my test results. My homocysteine levels are 10.7; however at a molecular level Mutation C677T says HOMOZYG MUT AB and next to it it says negative, but in the interpretation it says “The MTHFR gene was examined for the C667T mutation. Both alleles of the MTHFR gene show the C667Tmutation, indicating that this patient is homozygous for this mutation. This specimen was also examined for the A1298C mutation, which was found to be absent.”
    I have a complete panel done about once to twice a year and see an slight high RBC count, it’s pretty consistent. I know b vitamins help produce RBCs…I am scared the vitamin treatment for what I have will hurt me not help me. My father died at 50 with peripheral neuropathy, CHF, and diabetes. He also suffered with depression the majority of his life. He was also an addict (alcohol, food, and pain pills). He was not tested for this mutation at all. I am the first in my family to get tested because I threw clots in 2006 after being on birth control for a few months to control my PCOS. I just need help and peace of mind and direction. I started a whole plant foods diet this year as well…no meat or dairy so alot of my vitamins are ingested. What can I do to help myself? After reading this article I feel helpless. Thank you again.

  32. Thank you for the 101, easy to grasp and understand explanation of this difficult to understand information. I would love to have just the short video and written transcript to share with others. If i send someone to your site and then they start reading all the comments I know they will be frightened with the various information I read.

  33. hi wife has heterozygous silent mutation where prenisalone methotrxate intagram and privigen has not helped ck level was 3765 nowhas gone up to over 4000 muscles in legs are really bad we are in adelaide australia WORST CASE THEY HAVE EVER SEEN FROM A PRESCRIBED DRUG STATIN INDUCED MYOPATHY COULD YOU PLS ADVISE THIS HAS BEEN GOING ON NPOWS FOR 2 YEARS

  34. I’m Homozygous for C677T and have had 3 children. I just want those of you who are in the same boat and are wondering if you will ever have children to know that there is hope. I actually didn’t know I had mthfr until after having my 3rd child. I didn’t have easy pregnancies but I do have 3 healthy children. A few years after my last child I found out I had severe endometriosis which led me to getting the testing done. I now take the methylated B vitamins every day and other supplements. It is a constant battle — staying healthy and not letting stress affect me. I had shingles last year that lasted for over 5 months (PHN). That was another wake up call to take better car of myself.

  35. What do these SNPs translate to on 23andMe? I have the ability to browse my raw dna data, but none of these listed SNPs are coming up at all! When I just search “MTHFR” a whole list comes up, but the SNP naming convention is different, and looks fore like “rs12023469” or “i6015173”.

    Thanks for any help!

  36. I am homozygous for A1298C and have high homocysteine despite taking methylfolate (7.5mg/day). What else can I try?

  37. My doctor FINALLY ordered a GeneSight test because the medical history I have for medications NOT working or having an extremely SHORT period of time that it works as indicated it should finally started making her suspect I was a nutjob.

    This behavior by “medical professionals” is something I’m used to. I’ve known I was sick since I was 6 years old and began studying anatomy, physiology, herbs, oils, and….procedures back then. I decided I wanted to be a neurosurgeon….which is ironic for a reason I’ll get to later.

    I got marred and we waited so long to start babies people back home (we’re military and lived far away from our home state) began telling rumors they thought I was probably sterile. Really, I just wanted to know what a PCS (move to a new base) was going to be like and how often they’d happen. Turns out, it is every 3 years on the DOT. So as soon as we moved to our new base, I started a rapid detox of my entire body and did so for 6 months. Then March of the following year being the end of that 6 months, I called family and let them know we’ll be calling them with a due date as soon as we had one. Based on my own calculations…January 13th would have been his due date. That too….I knew I was having a boy so I told them that as well. And his name. They treated me like I was insane.

    Cinco de Mayo I was making phone calls that I was knocked up and due….January 13th. He ended up being a he….moving right along. When I delivered him, it was about 28 minutes of pushing which my midwife had never seen a first time mother do. She also thought, based on my appearance, I had to be “off” by a few weeks on my date of conception. I wasn’t. She examined the alfterbirth and said “Yep….that’s DEFINITELY a 41 week 5 day sac. She told me they can tell by color and a couple other things, but was again shocked that I appeared to the EYES to be about 5 months along, but I was 39 weeks when we told people at church we were having a baby. Lol I was wearing all of the same clothes to church that I always had.

    I found out something in September of that year that changed my life over night. I started having extremely odd neurological deficits and Sxs…..I went through my Left brain catalogue of “random, meaningless” crap I learned reading medical encyclopedia’s for fun when I was young and knew I needed a MRI. Badly. Stress exacerbated ALL of my Sxs. My doctor told me it was “all in your head”. He was sort of right.

    I pushed from January to September, during which time my husband was deployed, trying to get ANYONE to listen to me instead of chuck pills down my throat, which I refused. I finally told my doctor if he ordered the MRI and it came back with NO problems…I’d pay for it. He stuck his hand out to shake mine…like we were in the OK Corral and just made a deal over the cost per head of cattle. Unfortunately for him….and me too I suppose, the results came back with Arnold Chiari malformation 1 and syringomyelia.

    I’ve spent over a decade reading scholarly articles and studies to better understand this issue, because another thing I knew was….I was going to have a daughter. In my dreams…she aged as our marriage aged. She also slowly lost her smile in my dreams. The year before I had her I stopped dreaming about her. After 2 brain surgeries I made sure the surgeon as sure it was safe for me to be pregnant. He so absolutely. The hard part wasn’t for 10 months. I wanted him to be sure because it was the middle of July and when I family plan….my body does what I tell it to. that was the 2nd week of July. My brother’s wedding was August 10th. By the morning of the 13th, she was in there…on her way.

    I knew the day I saw her in the OB OR she was sick too. I could tell immediately that she had chiari….and it was WORSE than mine. Four pediatricians and TONS of insults later, I FINALLY found a pediatrician to check. If it isn’t on my husband’s orders when we’re moved, we won’t be sent somewhere that she’ll have access to a pediatric neurosurgeon.

    They did the MRI, she DID have chiari, and…yes, her cerebellular tonsil herniation is 3x worse than mine was, going by measurements alone. They STILL treat me like a moron.

    I went and did the GeneSight swab so ascertain if I had the homo MTHFR…I’d asked one of those 4 pediatricians to test our children for it, she refused and called me “insane”. Now that I have my results and they say:

    “This individual is homozygous, for the C allele of the C677T polymorphism in the MTHFR gene. This genotype is associated with normal folic acid metabolism, normal serum folate levels, and normal homocysteine levels.”

    Then….no one in the report NOR in my doctor’s office took the time to explain to me what exactly that means. If all of those things are working “normally” what effect on my health does a MTHFR homo C677T have?

    I am trying STILL to get the pediatricians to do this test for our children. First they told me the easiest way was to have a familial relative in immediate nucleus family (mother, father, or sibling) that has the mutation but given the THREE generations of females have extreme odd and difficultly treated conditions, they’d be most likely to just test my girl when my result was positive. My mother had a over 10 hour brain surgery in 1986 to untangle a vascular mass that pressed up against her 5th cranial nerve after she delivered me. Bearing down is a dangerous business for a chiari patient. Me having chiari, not knowing I had chiari, and delivering our son vaginal in 28 minutes took NO guess work on how I blew a synrinx into my spinal cord.

    With a medical history like that, I’d assumed they’d have just lined the children up and swabbed their cheeks immediately. But…they aren’t.

    Can you tell me what MTHFR homo C677T means for me? What it could mean for my children?

    I am currently looking at diagnoses for Ehlers-Danlos Syndrome, Mast Cell Activation Syndrome, and POTS (Postural Orthostatic Tachycardic Syndrome) as well but…none of these people here know what they are doing. I am in a precarious place of knowing MORE than they do, trying to HELP them do the right things without actually TELLING them to so as not to tweak their egos, and point them in the direction of specialists and tests that must happen for these things to be documented.

    Don’t worry when I say this, because I always sort myself out eventually…but this entire thing has driven me half insane multiple times. KNOWING there is something wrong and someone not being willing to look is hard. They insult YOU, the patient, because their objective exam after my subjective reported symptoms doesn’t show anything OBVIOUS being afoot. So, they tell me I need therapy and to go away. They did that when I told them my daughter was exhibiting symptoms of pain. It is too bad there is no law against doctors offending or pushing patients to the edge of their sanity. Perhaps they’d do it LESS if there were. I try not to rub it in their faces when they are actually doing their job. But the FIRST people who I remind that I am aware they are “PRACTICING” medicine on me, and maybe they might want to listen to the person who HAS this body and tries to function in it the other 23 hours of the day I am NOT in their office, get even MORE snippy than they already were and leave the exam room, refusing to treat me.

    I saw a Dermatologist for what was supposed to be a routine skin biopsy to be sent for genetic testing for Ehlers-Danlos Syndrome. He scoffed at me. Then he tried to administer the OLD Beighton test, didn’t look at ANY of the scars on my body, the light blue sclera in the corners of my eyes, my jaw, shoulders, and everything else that click in and out almost every single movement I make… The worst part was he did it in front of my husband and TWO residents. He wasn’t in the room 5 minutes, he treated me like I was stupid, and left.

    I’ve been at this since I was 6. Trying to figure out what is wrong with me. Now that all 3 of my children have one or MORE of these problems in varying degrees and….I’m dying….I’m getting pretty desperate for answers. My husband is extremely intelligent. But not with medicine. He’s a cyber warfare specialist. He doesn’t know ANYthing about these conditions. I had to tell HIM that he had hypermobility EDS, scoliosis, sleep apnea, and a couple other things. NO one bothered to tell him that stuff until he met ME. I was 25 and he was almost 28.

    I really need to know more about MTHFR but…MY MTHFR. The homo MTHFR C677T that I have, I need to understand it, how it effects me, and how it may be presenting in young children, so I can watch my children and make a paper trail with the pediatricians. The military moves us again next year. I will be starting ALL over again. I start over every 3 years. It is getting harder and harder to do it.

  38. Hello,
    I have C677T and A1298C. I am going in for a blood (hormone and thyroid) draw. I have been steadily gaining weight despite diet and exercise. Can you suggest any levels that should be tested? Thank you!

  39. I just realized that I have 2 reports. One report says I am NEGATIVE for C677T and Heteroyzgous for A1298C, but I have a copy of the A1298C Mutation.
    The questions still remains, are there any specific blood tests should that I should request?

  40. Natasha Fourie says:

    What about if both MTHFR C667T and MTHFR A1298C (these two genes was negatively impacted) and MTRR is homozygous. But CBS and COMT is heterozygous. The result on the MTR was just good.

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