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Diseases

Genetic and Rare Diseases Information Center (GARD)

MTHFR gene mutation

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* Not a rare disease

Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Questions Answered


4 question(s) from the public on this disease have been answered. Submit a new question.
  • I have two clotting disorders, antithrombin 3 deficiency and MTHFR. I also only have one kidney. My question is what are all my risks and do the risks outweigh the benefits for getting pregnant? We want to have children, but are scared with everything going on. Thank you! Click here for answer

  • I just found out I also have a MTHFR homozygous A1298C mutation. (the C677T mutation was NOT detected.) What does the combination of these two mutations mean for treatment and further testing recommendations? Click here for answer

  • I have recently been diagnosed with the C677T heterozygous gene mutation. What I would most like to know is: does this mutation have any bearing or is it something I do not need to concern myself with?  Click here for answer

  • I have MTHFR deficiency and I have four children; I am interested in having them genetically tested for the condition. I would also be interested in taking part in a study if there is anyone conducting research on this condition. Additionally, I am always looking for updated research from medical journals. Where can I go for the most current and reliable research articles on MTHFR? Click here for answer

Other Names for this Disease
  • Methylenetetrahydrofolate reductase mutation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.