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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This condition is inherited in an autosomal recessive fashion, which means that both copies of the gene in each cell have mutations in the MTHFR gene. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Last updated: 7/20/2011
- Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.