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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The optimal treatment for people with homocysteinemia due to MTHFR deficiency is unknown. Studies of treatment with folinic acid, vitamin B6, and vitamin B12 supplementation have been reported; however the benefit of this treatment is unclear. While vitamin therapy can reduce the levels of homocysteine, the evidence that these lower levels are associated with a reduction in the risk of complications due to homocysteinemia is lacking.
Last updated: 8/13/2015
- Homocysteine. American Academy of Family Physicians. 2006; http://familydoctor.org/online/famdocen/home/articles/249.html. Accessed 5/13/2009.
- Goodnight SH and Griffin JH. Hereditary Thrombophilia. In: Ernest Beutler, Marshall A. Lichtman, Barry S. Coller, Thomas J. Kipps, and Uri Seligsohn. Williams Hematology, 6th ed. Philadelphia, PA: McGraw-Hill ; 2001;
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- The NORD Physician Guide for Homocystinuria due to MTHFR deficiency was developed as a free service of the National Organization for Rare Disorders (NORD) and it's medical advisors. The guides provide a resource for clinicians about specific rare disorders to facilitate diagnosis and treatment of their patients with this condition.
- ClinicalTrials.gov lists trials that are studying or have studied Homocystinuria due to MTHFR deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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|Treatment of homocystinuria to decrease elevated homocysteine blood levels.|
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