What are Folic Acid, Folate, Methylfolate, and MTHFR, and Why Is Everyone Talking About Them?




Most folks have heard by now that women need folate / folic acid, one of the B vitamins, to grow healthy babies.  Women who do not consume adequate folate run a much greater risk of having a baby with a neural tube defect (NTD). The neural tube closes very early in pregnancy (28 days from conception), so the folate must be consumed from conception, or, ideally, before conception. For this reason, the United States and other countries require fortification of cereal grains with folic acid (a synthetic, shelf-stable form of folate).

Studies show that since the introduction of mandatory fortification, prevalence of NTD in the US has declined by 19-32%.  This is a fantastic achievement, but as long as NTDs continue to occur, there’s work to be done.  So why haven’t NTDs declined more than 32%?  There are several reasons.  First, not everyone eats enough processed cereal grains to get enough folic acid.  Second, folate deficiency may not be the only cause of NTDs (B12 deficiency may be one contributor).  Third, some people may choose not to supplement (see below).  And finally, some people don’t process the folic acid properly (see below).  Of note, the CDC recently found that many women who have already been affected by an NTD still are not consuming or supplementing adequate amounts of folate / folic acid.

Who Doesn’t Process Folic Acid Properly / What is MTHFR?

“MTHFR” refers to three things:  a gene, an enzyme, and, more colloquially, a set of genetic defects that cause the body to process folic acid improperly.  MTHFR is the symbol for the gene methylenetetrahydrofolate reductase.  The MTHFR gene tells the body how to make the enzyme of the same name.  In a nutshell, the MTHFR enzyme allows your body to process folate.  If the MTHFR gene is mutated, then the MTHFR enzyme does not work properly, and the body does not process folate properly.  A person with a mutated MTHFR gene may be said to have “MTHFR.”

Why Do People Choose Not To Supplement?

Some pregnant women avoid supplements, thereby increasing their odds for a neural tube defect.  These women may just not like to take pills, feel they can’t afford them, or feel too nauseated to take pills.  Women who have the MTHFR mutation may even feel ill after taking a folic acid supplement.  (Some women with the mutation even feel ill after eating folate rich foods or taking a natural, bio-available supplement, but that is beyond the scope of this article. For more on this topic, see this article.)  This is because the mutation(s) itself causes the body to process the supplement incorrectly.

Why Should I Care About MTHFR?

Insight into the MTHFR defect is rapidly evolving as new research emerges.  The defect has been associated with myriad health problems, including birth defects (neural tube defects among them) and conditions such as autism and Down’s Syndrome.  Addressing your MTHFR mutation BEFORE you begin trying to conceive can increase your body’s ability to nourish a pregnancy and increase your odds for a perfectly healthy baby.  (Addressing an MTHFR mutation during a pregnancy can also be helpful).  If your child has health problems, testing for MTHFR mutations and treating them may mollify or cure the health problems.

How Do I Know If I Have the MTHFR Mutation?

A simple blood test can tell you if you have an MTHFR mutation, and if so, which mutation(s) you have.  Your doctor can order the test for you.  Many, but not all, doctors are familiar with MTHFR testing and treatment; if your doctor cannot or will not order the tests for you, try looking here for a doctor who will.  It is important to research the different treatment approaches that are available before starting a treatment protocol.

Folic Acid vs Folate vs Methylfolate vs 5-MTHF vs … What Does It All Mean??

Numerous terms are used to refer to folic acid and folate.  It’s confusing.

Folic acid and folate are commonly, but incorrectly, thought to refer to the same compound.  Both terms are used generically to refer to the folic acid contained in foods and supplements.  More accurately, folic acid is a synthetic type of folate used in breads, cereals and supplements.  Folic acid is inactive in the body.  It must be converted to methylfolate to be used by the body.  The conversion to methylfolate depends on the MTHFR enzyme.  Therefore, folks with an MTHFR mutation will not convert well.  Some experts say that no one, mutation or not, will be well served by taking folic acid supplements, and anyone wishing to supplement should use methylfolate.

Methylfolate is the same as 5-MTHF and is the biologically active form of folate.  Methylfolate is available in supplement form.  People who have the MTHFR mutation can skip the conversion from the inactive folic acid supplement to the active methylfolate by taking methylfolate as a supplement.

You may also see “L-MTHF / methylfolate” or “D-MTHF / methylfolate.”  The “L-” indicates that it is usable by the body.  The “D-” indicates a similar chemical substance that is NOT usable by the body.

There are still more terms that I omit here for sake of simplicity.

How Can I Treat My MTHFR Mutation?

Do not try to treat an MTHFR mutation without the guidance of an MTHFR literate doctor.  As you saw above, the world of folic acid supplements is confusing.  Furthermore, different gene mutations can confuse the picture further, causing a well intended methylfolate supplement to do harm.  Each individual will need a slightly different treatment plan based on underlying health, gene mutations, lifestyle, diet, and other factors.  Do not go it alone.

How Can I Find Out More?

Dr. Ben Lynch is a naturopathic doctor who spends countless hours researching MTHFR.  His website will take you deep into the world of MTHFR mutations.  His supplement company, Seeking Health, offers high quality, bio-available methylfolate supplements, multivitamins and prenatal vitamins.  Again, do not attempt to treat yourself without the aid of an MTHFR savvy doctor.





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Teresa Neff
Teresa Neff
Dr. Teresa specializes in pediatric and adolescent medicine and women’s health. After earning her doctorate from Bastyr University, she spent over two years at The Kids Clinic, in north Seattle, first as a medical resident, and then as a staff physician. At The Kids Clinic, she became comfortable managing urgent acute matters as well as chronic health concerns. Dr. Teresa loves combining her life long love of teaching children with her passion for natural medicine.As a primary care provider, she offers well child exams, well woman exams, sports physicals, lab studies, vaccines and vaccine education. In addition, she uses the various tools of naturopathic medicine, including Craniosacral Therapy, Visceral Manipulation, and Classical Homeopathy, among others, to build healthy foundations and to promote health and empower her patients.Dr. Teresa also studied breastfeeding and lactation with the Simkin Center and holds a certificate as a Certified Lactation Educator (CLE). Having experienced the struggles and the joys of breastfeeding herself, she is happy to help moms establish or continue breastfeeding. Dr. Teresa sees patients at Seattle Nature Cure Clinic in Seattle, Washington. Schedule an appointment with Dr. Neff in Seattle, Washington

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