What is MTHFR?
MTHFR stands for MethyleneTetraHydroFolate Reductase. It is a gene that processes folic acid, one of the essential nutrients, to a form your body can use. "OK," you may ask, "what's that got to do with anything?" Read on to find out....
History of MTHFR
Methylenetetrahydrofolate Reductase (MTHFR) is a gene that was discovered while they were working on the Human Genome Project. Defects in this gene were found to be very common in the population, so they decided to look into this further. While there are many possible defects in the gene, the most common ones are C677T and A1298C. The names have to do with where on the gene the defect is and what the abnormality is...
What does MTHFR Do?
Diagnosis can sometimes be made by family history but often it requires a specialized blood test. Elevated folate and B12 levels can be suggestive of this disorder. Occasionally the diagnosis is made presumptively. Treatment consists of treating with pre-activated vitamins - ones that are already in a form your body can use. Not uncommonly people will do remarkably well with these therapies alone, although some people need additional assistance with their various diagnoses.