What is MTHFR?

MTHFR, short for Methylenetetrahydrofolate Reductase, is a very important enzyme in the body. It’s necessary for Methylation to occur, which is essential to convert both folate and folic acid into its active, usable form - 5-MTHF. Without the enzyme activity of MTHFR, methylation of folate and folic acid cannot occur properly.

What is MTHFR Mutation?

The MTHFR gene triggers the production of MTHFR enzymes. Roughly 30-50% of us carry a mutation in the MTHFR gene which can limit production of MTHFR enzymes. These MTHFR mutations are split into two general categories:
  • A1298C
  • C677T
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. Symptoms of a MTHFR mutation include high homocysteine levels, folate deficiency and miscarriage. The only way to know if you have a mutation for sure is to get a genetic test. An MTHFR mutation itself is not inherently dangerous, but knowing what the gene is and how it could affect your folate level is seen by many as beneficial.

What is L-Methylfolate (5-MTHF)?

L-methylfolate, or 5-MTHF, is the biologically active form of folate (vitamin B9). Biologically active means it is the form the human body can actually use in circulation. It's thought those with a "severe" MTHFR mutation may not be able to utilize other forms of folate (namely folic acid), so L-methylfolate becomes important. This compound occurs naturally in many foods, but is also available in a supplement form.

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