Homocystinuria due to MTHFR deficiency
Other Names for this Disease
- Homocysteinemia due to methylenetetrahydro-folate reductase deficiency
- Methylenetetrahydro-folate reductase deficiency
- Homocysteinuria due to methylenetetrahydro-folate reductase deficiency
- 5,10-alpha-methylenetetrahydro-folate reductase deficiency
- 5,10 alpha methylenetetrahydro-folate reductase deficiency
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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.
Last updated: 4/14/2015
- MTHFR. Genetics Home Reference (GHR). November, 2014; http://ghr.nlm.nih.gov/gene/MTHFR.