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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Homocysteinemia due to MTHFR deficiency


Other Names for this Disease
  • 5,10 alpha methylenetetrahydro-folate reductase deficiency
  • 5,10-alpha-methylenetetrahydro-folate reductase deficiency
  • Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
  • Homocysteinuria due to MTHFR deficiency
More Names
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Your Questions Answered


2 question(s) from the public on this disease have been answered. Submit a new question.
  • 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

  • I have MTHFR deficiency. Can you tell me more about this in lay language? Click here for answer