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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Treatment of MTHFR deficiency involves taking betaine, folinic acid, Vitamins B6 and B12, methionine, and methyltetrahydrofolate supplements. If MTHFR deficiency is diagnosed early and betaine treatment is started right away, affected infants have a much better developmental outcome. Treatments started later do not reverse symptoms but can cause favorable improvements in symptoms.
Last updated: 9/10/2015
- Munoz T, Patel J, Badilla-Porras R, Kronick J, Mercimek-Mahmutoglu S. Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency. Brain Dev. 2015 Jan; 37(1):168-70. Accessed 9/10/2015.
- Physician's Guide to The Homocystinurias. The National Organization of Rare Disorders. http://nordphysicianguides.org/wp-content/uploads/2012/02/Homocystinuria_11_29b.pdf. Accessed 9/10/2015.
- 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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