What Health Issues Are Associated With A Faulty MTHFR Gene?

The methylenetetrahydrofolate reductase (MTHFR) gene contains the genetic code to produce the MTHFR enzyme. This is a key enzyme that supports overall health. As a consequence a faulty MTHFR gene is associated with the development of a diverse range of health issues.

What Health Issues Are Associated With A Faulty MTHFR Gene?

The MTHFR enzyme sparks activity within all cells, and also plays an important role in folate metabolism. 

For this reason a range of conditions are associated with a faulty MTHFR gene. This includes:

  • Acute leukemia.
  • Addictive behavior.
  • Attention deficit hyperactivity disorder (ADHD).
  • Cardiovascular disease.
  • Cervial dysplasia.
  • Chronic fatigue.
  • Colon cancer.
  • Emotional health conditions including depression and anxiety.
  • For women, a higher risk of recurrent miscarriages.
  • Headaches and migraines.
  • High homocysteine.
  • Hypothyroidism.
  • Megaloblastic anemia.
  • Neural tube defects.
  • Neurological diseases such as Parkinson’s disease and multiple sclerosis (MS).
  • Psychiatric conditions such as clinical depression, bipolar and schizophrenia.

It is possible to order your own MTHFR testing with i-screen Australia or True Health Labs, USA.

Get Help From An MTHFR Expert

Concerned your MTHFR gene mutation is clinically significant?

Be aware, symptoms associated with a MTHFR gene variation are often hard to pinpoint. In fact, it’s all too easy to blame a slew of symptoms on a dysfunctional MTHFR enzyme.

The symptoms can overlap with a myriad of health concerns such as hypothyroidism, chronic fatigue syndrome, adrenal fatigue, mold toxicity, chemical sensitivities, metabolic syndrome, allergies, and food sensitivities.

So, if you’re ticking off multiple symptoms here today I strongly urge you to talk to a healthcare practitioner who understands MTHFR gene expression. This is especially important if you have a diagnosed thyroid disorder. Yes! A dysfunctional MTHFR enzyme matters to thyroid health.

A basic MTHFR protocol may include diet, lifestyle, and nutritional recommendations. If taking dietary supplements they will ideally contain methyl folate (active folate), methylcobalamin (active B12), and pyridoxal 5-phosphate (active B6). Methyl folate is the main folate in circulation and is the form that is most easily absorbed in supplements.

Finally, bear in mind genes are not hard-wired! It’s NOT all doom and gloom. We have the power to switch on, or switch off certain inherited genetic traits. In effect, there are many pieces to the puzzle that need to fit together. What we do know for sure is that stress, an unhealthy diet, a lack of sunshine, and exposure to hazardous environmental chemicals have a powerful impact on gene expression.


U.S National Library of Medicine. Genetics Home Reference. MTHFR gene. Link

Genetic and Rare Diseases Information Centre. MTHFR gene mutation. Link

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