MTHFR Gene Mutation Symptoms


MTHFR stands for methylene-tetra-hydro-folate reductase. It refers a gene whose job is to produce MTHFR enzyme. A mutation on the MTHFR gene means that this enzyme is not produced correctly which may lead to certain health issues. One of the many jobs of this important enzyme is to covert folic acid into a form the body can utilize and it also assists with detoxification pathways and toxin elimination.

For people with these mutations, synthetic folic acid can build up in the blood stream and is unable to enter the cells to be used for its important jobs including supervising DNA replication. Every time a cell divides and grows and replicates, it needs a usable form of folate to be there. The build up of synthetic folic acid in the blood stream can also cause imbalances and problems within the body. Standard pathology tests look at how much folate is in the blood but not how much is entering the cells to be utilized.


It is estimated that over 40% of the population has some kind of mutation (or more technically a genetic polymorphism) on the MTHFR genes. There are several types of MTHFR mutations, the most common being: C67TT – homozygous or heterozygous A1298C – homozygous or heterozygous Compound heterozygous


It is important to note that MTHFR gene mutations may cause no symptoms at all OR can be associated (often part of a complex puzzle) with certain conditions and symptoms OR can cause severe and irreversible health conditions such as Down’s Syndrome. Symptoms and conditions which MAY be associated with an MTHFR mutation include: • Recurrent miscarriage • Blood clotting issues • Ongoing fatigue • Sleep issues • Foggy thinking • Anxiety and depression • Poor alcohol tolerance • Chemical sensitivity • Family history of cardiovasular disease (particularly stroke and early heart attacks in male relatives) • Family history of cancers • Autism • Male infertility • Cleft palate • Cervical dysplasia (abnormal pap smears) • Tongue tie • Placental abruption • Spina bifida • Foetal developmental issues


In clinic, I will often test for the MTHFR mutation if a client presents with fertility problems and/or a family history of cardiovascular issues or other conditions listed above. I will also test if they are suffering from mental health complaints or chronic fatigue and chemical sensitivities. Once you have been tested, you don’t ever need to be tested again as it is a genetic test and will not change over time.


Treatment for MTHFR can be complicated and needs to be individualized.

• Firstly, it is important to avoid all synthetic folic acid which is added to many over-the-counter vitamin supplements, protein powders and most wheat-based food products including bread, cereals, crackers and more. Always check the ingredient list to ensure you are avoiding these products.

• Supplementing with an already-broken-down form of folate known as 5-MTHF may be required along with other nutrients to support methylation however this should be done under Naturopathic supervision as some people may have negative reactions to these supplements.

• Ensuring adequate intake of leafy greens is also essential as absorbable forms of folate can come from these.

• Nutrients to support liver detoxification may also be required.

• Nutrients to support blood thinning may also be required.

About the author

Belinda Kirkpatrick is an expert Nutritionist and Naturopath in Sydney. She specialises in natural fertility, family and women's health care. She is the author of Healthy Hormones (a practical guide to balancing your hormones) and is the founder of the SEED Concept and also Seed App for iPhone.

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