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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Homocystinuria 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
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
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Cause

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What causes homocystinuria due to MTHFR deficiency?

Homocystinuria due to MTHFR deficiency is caused by mutations in the MTHFR gene. This gene tells the body how to make an enzyme, also called MTHFR. MTHFR is important for a chemical reaction in the body involving forms of the vitamin folate. Mutations in the MTHFR gene result in an enzyme that doesn't work like it should, causing a buildup of homocysteine in the body.[1]
Last updated: 4/14/2015

References
  1. MTHFR. Genetics Home Reference (GHR). Februrary 2011; http://ghr.nlm.nih.gov/gene/MTHFR. Accessed 7/14/2011.


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
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.