What is MTHFR and What It Means For Your Health

The first time I heard about MTHFR was in 2011 during my third year of medical school. The term MTHFR was used in various classes such as genetics, pathology, and physiology with the professors alluding to its importance.

Now, being in practice as a Naturopathic Physician, I have seen how important it can be to test and appropriately treat genetic mutations because for some people, this can be the missing piece to their health puzzle.

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So what is MTHFR?

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MTHFR (methylenetetrahydrofolate reductase) is a gene that produces an enzyme to convert folic acid into methylfolate (5-MTHF). 5-MTHF is the form of folate the body needs in various biochemical reactions and processes including DNA synthesis and repair, neurotransmitter production, detoxification, red and white blood cell production, and methylation. If you have a mutation in MTHFR, you have a reduced ability to convert folic acid into 5-MTHF.

MTHFR mutation affects about 30-50% of the population. Many people are unaware of this mutation. Testing is becoming more affordable and accessible and it is becoming more common to test for it. There is more than one MTHFR gene; there are actually over 50. Two specific ones have been heavily researched and it has been found that if one or both are mutated, this drastically reduces your ability to convert folic acid into 5-MTHF. These two main genes are A1298C and C677T.

In 1998 the FDA required food manufacturers to include folic acid in flour and cereal. The intake of folic acid increases with the consumption of packaged fortified foods. For those with a MTHFR gene mutation, only a small percentage of folic acid will be converted. What happens to the rest?

Unmetabolized folic acid has been shown to decrease natural killer cell activity, mask a B12 deficiency as well as inhibit the MTHFR enzyme. Not something you want happening! As a result, when I suggest folate to my patients, I recommend methylfolate, and not folic acid.

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What could a mutation in the MTHFR gene mean?

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The research is showing an increasing number of conditions that can be associated with a mutation in this gene including recurrent miscarriages, depression, Alzheimer’s, and a few types of cancers.

More and more obstetricians in Singapore are now testing MTHFR in a routine screening process for those who are experiencing difficulty getting pregnant or have had multiple miscarriages. One of the main reasons to test is because these women may have a decreased ability to utilize folic acid, which is one of the most important B vitamins needed during pregnancy.

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Should you simply supplement with 5-MTHF if you have a MTHFR mutation?

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The answer is maybe. As a Naturopathic Doctor in Singapore, I support people with genetic mutations. MTHFR is one of the many genes that play a role in health so I encourage patients to look at MTHFR among many others, before coming up with an overall treatment plan.

Taking 5-MTHF can make you feel better but it can also make you feel worse and there are reasons for this. I have seen first-hand a child have adverse reactions to 5-MTHF because their doctor did not look at the many other genes. It is important to work with a health practitioner trained in genetics who can tailor a treatment as every person will be different than the next. With my patients, I look at the entirety of the case, not just their genetics which is one piece to solving dis-ease.


Dr Bean is currently the only practitioner in SE Asia listed on one of the main education sites for practitioners doing training to support patients with genetic mutations. When seeking a doctor to help you, make sure they have formal training so they are helping you appropriately. You can find practitioners on www.seekinghealth.org and www.MTHFRSupport.com

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