Dr Catherine Clinton, ND

Ever heard of the MTHFR enzyme and how it can be mutated in a large percentage of people?

MTHFR mutations can lead to many common health problems and diseases. More and more adults are being tested and appropriately supplemented for this genetic mutation but we don’t hear much about MTHFR mutations and children. Let’s explore what MTHFR mutations are, how to test for them, and what to do if you or your child has MTHFR mutations.

What are MTHFR Mutations?

MTHFR mutations are single nucleotide polymorphisms that occur within the DNA. Single nucleotide polymorphisms (SNPs) occur when one nucleotide on the DNA is altered. These small point mutations or changes within the DNA affect how a person develops a disease as well as how they react to drugs, toxins, pathogens, vaccines and other agents. As of 2013 there were over 62,000,000 SNPs recorded in humans. MTHFR is a SNP with about 50 different variants.

So if There are over 62 million SNPs Why does the MTHFR Mutation get all the Attention?

MTHFR stands for methyl-tetrahydrofolate reductase, an enzyme that is necessary for cellular synthesis, production and repair of DNA, detoxification functions, neurotransmitter production as well as supporting healthy formation of platelets, white blood cells and red blood cells. As you can see the MTHFR enzyme is necessary to so many vital body functions. MTHFR mutations can make it hard for the body to do all those vital functions which can cause a whole bunch of health concerns.

The 2 most challenging MTHFR mutations that can occur are C677T and A1298C. These names signify the location of the mutation on the gene. The most common forms of MTHFR mutation involve various combinations of these genes being passed on from each parent:

  • Homozygous mutation: the same mutated gene passed on from both parents- can occur if both pass on the 677 mutation, or the 1298 mutation.
  • Heterozygous mutation: one parent passed on the 677 mutation or the 1298 mutation but the other parent passed on a normal gene.
  • Compound Heterozygous mutation: one parent passed on the 677 mutation and the other passed on the 1298 mutation, this is the most problematic combination.

Remember, there are lots of different kinds of MTHFR mutations, these are just the most common and problematic.

As many as 40% of people have some form or combination the MTHFR mutation. Research links MTHFR mutations to an increased risk for heart disease, colon cancer, stroke, recurrent miscarriage, Alzheimer’s disease, and depression in adults (1,2)

“MTHFR plays a key role in folate metabolism and in the homeostasis of homocysteine; mutations in the enzyme lead to hyperhomocyst(e)inemia. A common C677T polymorphism in MTHFR has been associated with an increased risk for the development of cardiovascular disease, Alzheimer’s disease, and depression in adults, and of neural tube defects in the fetus.”

But What about the Importance of Detecting and Treating a MTHFR Mutation in Children?

We know that a MTHFR mutation affects the development of the baby inside and outside the womb. Detecting a MTHFR mutation is especially important for women of childbearing age, as this defect can increase the risk of many problems in an unborn child, including folate related disorders like Spina Bifida. MTHFR defects have been directly associated with congenital heart disease and cardiac malformations. (3) Since heart formation occurs so early in embryological development, it is a good idea for mothers to be properly supplementing before conceiving to prevent congenital heart disease.

Cleft lip and cleft palate are also directly associated with a mother who has homozygous C677T status. (4)

Autism is a rapidly growing epidemic in our young with thousands of children receiving autism spectrum diagnoses each year. A 2013 Meta-Analysis found C677T mutations are highly correlated with Autism Spectrum Diagnoses. (5) MTHFR mutations, in A1298C, not C677T, are linked to an increased risk of ADHD. (6) Certain drugs for ADHD work by increasing norepinephrine to improve focus and attention and proper MTHFR function is necessary for normal norepinephrine levels.

Clearly, testing and appropriate supplementation for a MTHFR mutation is especially important for today’s children.

Testing for MTHFR mutations:

There are a few ways to test for MTHFR mutations. The company 23 and Me does comprehensive genetic testing without a doctor’s order so this is accessible to the general public. There are also a few specialty labs that do genetic testing like Pathway Genomics and Boston Heart Lab. I personally use Spectra Cell lab’s genetic tests with most of my patients. If you are concerned about MTHFR, genetic testing is a good thing to discuss with your healthcare provider. (I am not affiliated with any lab nor do I receive any financial compensation for mentioning them.)


You cannot change a gene mutation, but there are things that can be done to lessen the potential problems:

  • Promote Gut Health: Proper digestion and absorption of nutrients is essential to health especially in those with a MTHFR mutation. Addressing any gastrointestinal infections, gut inflammation and intestinal permeability is especially helpful to people with a MTHFR defect. I recommend a clean diet packed with vegetables, fruits and fiber as well as rich in probiotics from fermented foods or supplements.
  • Avoid Environmental Toxins: Those with an MTHFR gene defect have an impaired ability to eliminate toxins. Avoid plastics, chemicals in beauty supplies, cleaning products, and household products as well as furnishings and flame retardants in clothes and bedding, which can all release harmful chemicals.
  • Don’t Take Folic Acid: Folic acid is the synthetic form of folate that cannot be metabolized by people with a MTHFR mutation. Since it cannot be metabolized, the folic acid builds up and creates a toxicity. Supplements and foods with added folic acid should be avoided. Instead, look for supplements containing 5-MTHF folate as most with MTHFR defects are able to utilize this methylated form of the vitamin. One consideration with supplementing a MTHFR mutation is those who get more hyperactive, aggressive or have other side effects from 5-MTHF supplementation. These people often have additional genetic mutations and cannot metabolize the adrenaline they produce with 5-MTHF. Be sure to work with a qualified healthcare provider when navigating a gene mutation and its supplement therapy.
  • Eat Your Greens: Dark leafy greens contain the methylated forms of folate that those with a gene defect can use. Including cooked, dark leafy greens like spinach, kale, bok choy, and swiss chard in your diet is a great tool for those a MTHFR mutation.
  • Support Detox: Since those with a MTHFR defect have an impaired ability to eliminate toxins, it is important to support this process with Epsom salt baths, sauna use, drinking enough clean water, dry skin brushing or lymphatic massage, exercise and sweating.

The MTHFR enzyme is vital for overall health. MTHFR mutations have been associated with a long list of chronic diseases. With many adults being tested and treated for a MTHFR mutation, it is time to start addressing this genetic mutation in our children. If you are concerned about a possible MTHFR mutation in your child contact a qualified healthcare provider to test and appropriately supplement for a MTHFR mutation.


(1) Trimmer EE. Methylenetetrahydrofolate reductase: biochemical characterization and medical significance. Curr Pharm Des. 2013;19(14):2574-93.

(2) http://www.clinchem.org/content/55/9/1742.full.pdf

(3) Shi H, Yang S, Liu Y, et al. Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease. PLoS One. 2015 Jun 2;10(6):e0128646. doi: 10.1371/journal.pone.0128646.

(4) Pan X, Wang P, Yin X, et al. Association between Maternal MTHFR Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in Offspring, A Meta-Analysis Based on 15 Case-Control Studies. Int J Fertil Steril. 2015 Jan-Mar;8(4):463-80.

(5) Pu D, Shen Y, Wu J. Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis. Autism Res. 2013 Oct;6(5):384-92. doi: 10.1002/aur.1300.

(6) Gokcen C, Kocak N, Pekgor A. Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder. Int J Med Sci. 2011;8(7):523-8.

 Catherine Clinton ND, is a graduate of the National College of Natural Medicine (NCNM) in Portland, Oregon. She is a board licensed naturopathic doctor currently practicing at her private clinic in Eugene, Oregon.
Dr. Clinton is a speaker on integrative medicine and gut health and has authored several publications in those areas. She is founder of WellFuture, a line of nutritional supplements for infants and children that uses organic, whole food ingredients and the greenest, bioavailable nutrients.
When in medical school Catherine was diagnosed with an autoimmune disease that effects the gastrointestinal tract, leaving her with a special interest in autoimmune diseases and gastrointestinal conditions. Accessing how the multiple systems of the body are working together is a vital piece of Dr. Clinton’s practice. With a practice focused on gastrointestinal and immune health Dr. Clinton utilizes the latest in functional medicine combined with nutrition, herbal medicine and lifestyle interventions to treat a variety of digestive complaints, autoimmune diseases and pediatric conditions.
With the birth of her own children Dr. Clinton became passionate about the prevention of these chronic diseases and conditions by addressing the immune systems and gastrointestinal health of our children. Catherine is deeply committed to the optimal health of babies, children and families everywhere and loves to interact with her readers through her blog and social media. Her blog can be found at  www.wellfuture.com/blogs/news

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