Symptoms and health conditions associated with MTHFR mutations

February 28, 2024 5 mins to read

This is a quick breakdown of some of the more common MTHFR mutation symptoms as well as MTHFR diseases and conditions, but this is by no means an exhaustive list. This list should be relevant for those with MTFR mutations like C677T and A1298C, where there is difficulty in converting folic acid (synthetic B9) to methylfolate (the bioactive form of B9), and consequential elevated homocysteine levels and lowered glutathione levels. If a bunch of these symptoms seem relevant to you, I encourage you to order a proper methylation test, to check all your genes and methylation difficulties so that your health can be improved, through a holistic nutritional plan tailored to your unique genetic profile by a professional.

⚠️Did you know it’s estimated that over 44% of people have an MTHFR mutation, and can’t process folic acid properly? A nutrient vital for optimal health!

MTHFR Mutation Symptoms

  • Fatigue: Persistent tiredness not relieved by rest.
  • Mood Disorders: Depression, anxiety, and mood swings e.g. short temper is common
  • Cognitive Impairments: Difficulties with concentration and memory.
  • Headaches: Including migraines, often with aura.
  • Cardiovascular Symptoms: Such as palpitations or increased heart rate.
  • Nerve Symptoms: Numbness, tingling, or burning sensations in the hands and feet.
  • Muscle Aches: Persistent muscle pain or weakness.
  • Digestive Issues: Including irritable bowel syndrome (IBS)-like symptoms.
  • Skin Conditions: Rashes, acne, or eczema.

Your Unique Symptoms

This isn’t an exhaustive list of MTHFR mutation symptoms, and there are many other possible symptoms. Each individual is unique, and may have different assortments of genes expressing themselves as ‘dirty’ or ‘clean’ (genes with mutations) which means you could have gene mutations and not even have symptoms, because your other genes are supporting it. Also, a lot of people are not well attuned to the messages their body are sending them, and may not even be aware of these symptoms; also true if they are medicating them, with medications also having their own plethora of side effects.

MTHFR Mutation Symptoms and Diseases

  • Cardiovascular Diseases: Increased risk of heart disease, stroke, and blood clots due to elevated homocysteine levels.
  • Neurological Disorders: Increased risk of Alzheimer’s disease and dementia.
  • Psychiatric Disorders: Higher incidence of anxiety, depression, bipolar disorder, and schizophrenia.
  • Pregnancy Complications: Including recurrent miscarriages, neural tube defects, and preeclampsia.
  • Chronic Fatigue Syndrome: Due to impaired methylation and energy production.
  • Autoimmune Diseases: Potential increased risk for autoimmune conditions like rheumatoid arthritis ,lupus, hashimotos, etc.
  • Certain Cancers: A possible increased risk for colon, breast, and other cancers.
  • Bone Health Issues: Increased risk of osteoporosis and fractures.

Note: having an MTHFR mutation does not guarantee the development of these symptoms or conditions. It simply increases the susceptibility or risk; often interacting with other genetic and environmental factors.

What To Do About MTHFR Gene Mutations?

The first step is getting proper methylation testing (link to methylation test I recommend), before jumping into supplementation. For individuals with MTHFR mutations, a professional may recommend lifestyle changes, dietary adjustments (including folate-rich foods or methylfolate supplements), targeted supplementation and regular monitoring of homocysteine levels to manage these risks effectively. Check out my Holistic guide to MTHFR and Book a video call now to transform your health with a tailored holistic nutritional plan.

Methylation Testing

Methylation testing is a type of genetic test, that checks for gene mutations connected with methylation in your body. Billions of methylation processes go on in your body every minute, making it absolutely essential for optimal health. Your genes hold the secrets to better health, and getting a methylation test can help uncover the root causes of your health issues, and enables you to start supplementing according to your unique genetic profile, instead of just supplementing for the sake of supplementing.

JDs Holistic Guide to MTHFR

Check out my ultimate holistic guide to MTHFR mutations (like C677T and A1298C)! Includes tips to support MTHFR with lifestyle, diet and targeted supplements.

Work With A Professional

Work with a holistic nutritionist or nutritional counselor with knowledge of genomics, who can help design a nutrition plan for your unique genetic profile. Get answers to your questions, find out what to eat and the best supplements to take to begin feeling better now! Book a video call next day, all you need is your smartphone and it can be done from the comfort of your own home.


MTHFR mutations (and MTHFR mutation symptoms) are extremely common, affecting over 44% of individuals. National campaigns to fortify our food with synthetic vitamin b9 known as folic acid, can be detrimental to individuals with this mutation, who can’t process that folic acid properly; even blocking folate receptors from responding to natural (non-manmade) folate (b9). This can lead to a buildup of homocysteine, and lowered levels of glutathione aka “the master detoxifier” and is extremely important for detoxing the body and over-all health. This cascade of affects can lead to these MTHFR mutation symptoms and conditions or diseases connected with impaired ability to process folic acid. It’s clear that there’s a broad range of symptoms and health issues for MTHFR mutations.


The information provided in this article is for educational and informational purposes only and is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The views expressed in this article are those of the author and do not necessarily reflect the official policy or position of any health care agency or government entity in Canada or the United States.

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