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MTHFR & Chronic Illness: What You Should Know

As humans, many of us get sick, but some of us get sick and stay chronically sick. It’s either one thing or another, and like you, I’ve always wondered why. A few years ago, I discovered information about MTHFR, which is our detox gene.

MTHFR is an abbreviation for methylenetetrahydrofolate reductase, an enzyme that breaks down the amino acid homocysteine and folate inside of the body. It is vital in the biochemical process called methylation, also known as detoxification.

MTHFR play an important role in the body’s efforts to get toxins out of the tissues and the cells. Approximately 40% of the population has a one or more mutations associated with this gene, and often express symptoms of high anxiety, chronic inflammation/pain and fatigue.

Our genes can either be expressed or become repressed due to the food we eat, the liquids we consume or bath in, personal care products or make-up applied to our skin, and even the air we breathe. And, as most of us know, there’s toxins in each of these mentioned.

Typically, this means those with MTHFR genetic defect/s cannot:

  • Metabolize B-vitamins or folate
  • Absorb nutrients from food as well as they should due to lower enzyme functionality
  • Detox as normal due to lack of methylation, or detox, pathways to and through the liver and kidneys
  • Protect their red blood cells (RBCs) from oxidative stress, which is what occurs when harmful cell debris like overgrown amino acids, candida, parasites, heavy metals, mold, uric acid, etc. attack and damage the RBCs

MTHFR: More Details

The C allele is associated with decreased enzyme function. Folate requirements are increased and supplementation of folate, B2, B6 and B12 may be desirable.

The T allele lowers MTHFR enzyme activity, which results in an increase in homocysteine levels, a decrease in DNA methylation, and thus an increase in DNA adducts. T allele carriers have increased folate, vitamin B2, B6 and B12 requirements. In addition to folate-rich foods, a supplement may be recommended.


Most medical doctors aren’t familiar with MTHFR, or they may tell you that it’s something made-up by holistic practitioners. It’s, in fact, real and testing for this genetic issue is completed by “modern” medical facilities, not holistic ones. Genetic tests for MTHFR typically cost around $200, and are not covered by insurance.

If your doctor will agree to test you or your child for MTHFR then they should also test for the following:

  • Homocysteine levels
  • B-vitamin levels
  • Folate levels
  • Uric acid levels
  • Iron levels & thyroid stimulating hormone
  • Adrenal fatigue
  • Liver panel – AST & ALT
  • Fungal panel
  • Mold toxicity
  • Heavy metals
  • Parasitic stool sample test
  • Full red blood cell count
  • Full white blood cell count

Screening for MTHFR gene variants is recommended by organizations, such as the American Heart Association and the American Congress of Obstetricians and Gynecologists.

MTHFR and Other Health Disorders

At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly. Age-related hearing loss, alopecia areata, anencephaly, spina bifida and many other disorders also have strong ties to MTHFR, according to the National Institutes of Health homepage on the topic.

There are dozens of other diseases that can be enhanced in the body by impaired MTHFR functionality. Examples include cancer, diabetes, sickle-cell anemia, Alzheimer’s disease, cardiovascular disease, diabetes, multiple sclerosis, autism and glaucoma, among others.


Depending how which defect you have, your diet has to be strict and specific. It’s going to be trial-and-error, but remember these key tenets:

  • Avoid red meat, pork and sushi, processed snacks and foods, dairy and related products, white breads, sugar sodas and drinks, as well as anything with synthetic folic acid, including supplements.
  • Consume more folate in your diet to aid with methylation. Some of the best whole-food sources of folate include dark leafy greens, avocado, and lentils. Those with an MTHFR mutation are also at higher risk of being low in Vitamin B12.
  • Eat anti-inflammatory fruits, including pineapple, mango, papaya; as well as fruits high in anti-oxidants (cell protectors), such as citrus, berries, grapes and pomegranate.

Folic Acid vs. Folate

Those with MTHFR should never consume folic acid. It’s a synthesized version of vitamin B9 that is added to processed foods and the common version used in supplements. Folic acid has a molecular structure that is nearly identical to folate. Due to their close resemblance, folic acid and folate are widely considered to be the same — but they aren’t.

Excess folate, when it accumulates is now recognized to be harmful. An increase in un-metabolized folic acid can lead to many issues, including fetal loss in pregnant women. It can lead to an immune dysfunction by dysregulation of natural killer cells, too. Increased folic acid has been linked to accelerations of leukemia, colorectal and prostate carcinomas.


The bodies of those with MTHFR are not genetically wired to detox on their own, so detoxing must be done manually; and, ideally with the assistance of a certified detox specialist, naturopath, nutritionist or holistically-minded DO or MD.

Common detox therapies include lymphatic drainage massage, reflexology, ionic detox foot baths, infrared sauna, red light therapy and microcurrent therapy. It can take anywhere from 3-12 months to full detox the body, and regular detoxing thereafter to maintain energy and keep inflammation at bay.

Inflammation is a normal immune response and an essential step in tissue healing. The release of these inflammatory substances is controlled by genes that govern inflammation. However, when these genes are not switched off, the inflammatory response continues.

B Vitamins & DNA

B vitamins provide building blocks for growing cells, which are constantly being renewed, and play an important role in many physiological processes. B vitamins also supply some of the chemicals necessary for protecting our genes, so that our DNA doesn’t accumulate damage from the wear and tear in the daily lives of our cells.

These vitamins – including folate, vitamins B6 and B12 – help make new DNA for cells that are constantly growing and renewing themselves. Folate is also involved in turning many genes on and off, and also helps repair DNA. The process of DNA repair is called methylation. Although B vitamins are only required in small amounts, they are crucial for methylation and in producing new DNA.

Other Supplements

Those with MTHFR mutations will always need supplements, but they should be whole food, cold-pressed and plant-based, first and foremost. You also want to focus on supplements that are enzymes in and of themselves, or have enzyme delivery systems for maximum absorption.

These supplements should be considered:

  • B-complex
  • Folate (not folic acid)
  • Glutathione (a super antioxidant, or cell protector)
  • Enzymes for digestion, inflammation and others
  • Liver and kidney cleanses once a year
  • Adrenal balancer
  • Iodine
  • A probiotic with prebiotic strain (pre- feeds the pro-)

Anthony Beven is a Certified Live Blood Analyst & Detox Specialist at Detox Day Spa, 3775 South Baldwin Road, Lake Orion, MI. For more information, or to start your detox journey today, call 248-791-3936 or visit

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