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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Homocysteinemia 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
  • Homocysteinuria due to MTHFR deficiency
More Names
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Inheritance


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How is homocysteinemia due to MTHFR deficiency inherited?

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.[1]
Last updated: 7/20/2011

References
  1. Homocystinuria. Genetics Home Reference (GHR). 2008; http://www.ghr.nlm.nih.gov/condition=homocystinuria. Accessed 3/16/2011.