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 folic 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 levles are associated with a reduction in the risk of complications due to homocysteinemia is lacking. Much of the literature on this topic is conflicting, with some studies reporting benefit, some no improvement, and some an increased risk for complications.
Last updated: 7/20/2011
- 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;
- 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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