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MTHFR Mutation


¿What is MTHFR?

MTHFR (Methylenetetrahydrofolate Reductase) is a gene that provides instructions for making an enzyme that is involved in processing amino acids, the building blocks of proteins. Variations, or mutations, in the MTHFR gene can lead to reduced activity of the MTHFR enzyme, which can have a number of effects on the body.

People with MTHFR mutations may have an increased risk for certain health conditions, including:

  • Neural tube defects: birth defects that affect the brain and spine.

  • Cardiovascular disease: conditions that affect the heart and blood vessels.

  • Blood clots: the formation of a clot within a blood vessel that can block blood flow.

  • Certain cancers: such as colon and breast cancer.

While some people with MTHFR mutations may not have any symptoms, others may experience a variety of symptoms, including:

  • Chronic fatigue

  • Headaches

  • Depression and anxiety

  • Autism

  • Infertility

  • Migraines

  • Miscarriages

It is important to keep in mind that MTHFR mutations are common and do not necessarily cause symptoms. Additionally, many of the symptoms associated with MTHFR mutations can also be caused by other factors.

If you have a family history of MTHFR mutations or have concerns about your risk for related health conditions, talk to your doctor. They can help determine if genetic testing is appropriate and provide guidance on any necessary lifestyle changes or medical treatments.


As promised, our goal for 2021 is to provide education and answers to your questions. We have prepared an 8-part series webinar that covers the most requested topics. The webinars will start today twice a week for the next 4 weeks.

All our webinars are now in our MTHFR Blog and Webinar page here:

Schedule a 1 hour videoconference call

The videoconference is a medical consultation where we analyzed the form you filled up, any labs, medicines you are taking, and any other medical records you would like to send us. You can also have other people join the conference from different places if anyone has questions or concerns.

Doctor's Desk

MTHFR Experts

Focused on helping individuals with MTHFR Mutations

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