A member asked:

Mthfr, what is it?

9 doctors weighed in across 5 answers

It represents a gene: This stands for methylenetetrahydrofolate reductase. You can read about it in more detail at this website. http://ghr.nlm.nih.gov/gene/mthfr.

Answered 9/28/2016

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Dr. Su Fairchild answered

Specializes in Integrative Medicine

A gene: It is a gene that has polymorphisms (differences) in up to 1/4 of people. There are two well studied polymorphisms, 677 and 1298. Each causes slightly different problems. 677 decreases methylfolate, and 1298 can cause neurotransmitter shortage.

Answered 5/12/2015

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Dr. Liesa Harte answered

Specializes in Family Medicine

MTHFR: MTHFR 677 and MTHFR 1298 are both genes.

Answered 10/7/2016

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An enzyme and a gene: Methylene tetrahydrofolate (folic acid) reductase is an enzyme involved in many processes, requiring amino acids, folate (folic acid) etc. . Mutations in this gene affect a large number of functions best explained in this location in a relatively understandable manner http://www.stopthethyroidmadness.com/mthfr/

Answered 12/22/2014

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A gene: Testing for this gene is being heavily promoted by an aggressive lab. A majority of people who are tested are told they have an abnormal result and are given a recommendation for some nutritional supplements. There's just enough science here that not testing might cause trouble, but most of us pathologists aren't buying it as a useful test for folks who seem healthy.

Answered 2/3/2017

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