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  • What is the MTHFR Mutation?

What is the MTHFR Mutation?

November 29, 2014 / Charles W. Lapp, MD / Ask The Doctor

Q:            What’s this gene defect in folic acid metabolism all about (the MTHFR gene mutation), and should I be tested?  Does insurance cover that test?

A:            MTHFR (or methylenetetrahydofolate reductase) is an enzyme required to convert folate to methionine, which is then used in the production of necessary amino acids and other compounds. When MTHFR genes are mutated, then MTHFR is not produced well, homocysteine (thought to be involved in atherosclerosis and other  health issues) builds up and essential proteins are not made. There are at least 40 different MTHFR mutations known, but the two that occur at positions C677T or A1298C are most problematic. These occur in over 30% of individuals, but seem to be more common in PWCS , in my experience.  The “treatment” is to take methyl-folate and methyl-cobalamin (B12), which is recommended for most PWCs anyway, so it is not necessary to take the blood test for these mutations.  I generally recommend 400 to 1000 mcg of methyl-folate daily, and 1000 to 5000 mcg of methyl-B12, both of which are available over-the-counter.  The test for MTHFR mutations is frequently covered by insurance, but as of this writing (November 2014) Medicare is considering disallowing it.

3 comments on “What is the MTHFR Mutation?”

  1. Denise Schmucker says:
    December 2, 2014 at 3:15 pm

    I have been told that I have both mutations. C677T (C766T per record) and A1298C, per Lab Corp. I was informed to start injections and methylfolate. I was told that I would find information and purchase methylfolate online.

    I was not informed how to handle the methyfolate. How much? How often? Do I need to have blood tests that the lab suggested (fasting homocysteine)? Do I need to be referred to a differnet specialist?

    I have a positive ANA and I am not sure but I think I am a positive with Lyme. (Lyme disease is very high my area, I am aware of the numerous varieties). (.91) (I am experiencing larger amounts of swelling in the knuckles).

    Any information would be helpful. I have been dealing with fibro for many years, and being informed that I have these mutations is very new to me. The methylfolate internet search warns me of many side effects and a large range of dosages. I do not want to add to the many physical symptoms/pain that I all ready have.

    Thank you for your help.
    Denise Schmucker

    • Denise Schmucker says:
      December 2, 2014 at 4:35 pm

      I just called a compound pharmacy to ask about the hydrocobalamin that was prescribed and this pharmacy did not do the “hydro” B12. They did mention the “methyl” B12 and informed me it was an active form and questioned me if I had it correct. (I was discussing the “methyl” foliate acid that I was planning to get and the two mutations that I have.) I would appreciate some clarification on both posts.

      Thank You for your help.
      Denise Schmucker

    • Charles W. Lapp, MD says:
      March 7, 2015 at 9:03 pm

      Denise, the dose of methyl-folate is 400 mcg to 1000mcg, and both of these doses are available OTC. You do not need to take B12 injections unless your B12 level is low (less than 300). Otherwise you can just take 1000 mcg to 5000 mcg of methyl-conalamin (B12) by mouth. Both of these are available online, and many of my patients get them from amazon.com.

Dr. Hillman

Dr. Hillman

Dr. Hillman was born and reared in Utica, New York. He attended college at Clarkson University where he earned a bachelor’s degree in engineering, and then spent two years toward a master’s degree in biochemistry/oncology at the University of Buffalo’s Roswell Park Division, where he did research in leukemia. Dr. Hillman attended St. George’s University School of Medicine, and completed his clinical years at the Maimonides Medical Center in Brooklyn, New York, graduating in 1996. During the Summer of 1994 he also did research at the University of Buffalo Dental School using PCR technology on RNA subtyping of gram negative oral bacteria. Following medical school, Hillman went on to a Family Practice Residency at North Shore / Long Island Jewish Hospital in Bay Shore, NY.

After his residency, Dr. Hillman worked for the US Army at the West Point Military Academy (Keller Army Hospital family practice unit), worked in the Emergency Room and hospital admitting areas, and ran a private practice as well. From 2005-2006 he also worked at the Winn Army Hospital at Fort Stewart, GA, before setting up a private Family Practice in Huntersville, NC in 2007. In addition to his private practice Dr. Hillman also has an interest in helping clients with disabilities. He has worked for ProMed Urgent Care in Occupational Medicine and performed over 13,000 examinations for Social Security Disability.

Dr. Hillman has a family member with Chronic Fatigue Syndrome, so he has a long standing interest and empathy with the disorder! He is married and has two sons and a daughter. The family lives in Huntersville.

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