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GTR Home > Conditions/Phenotypes > Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Synonyms
5,10-alpha-methylenetetrahydro-folate reductase deficiency; HOMOCYSTEINURIA DUE TO MTHFR DEFICIENCY; HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY; Homocysteinemia due to MTHFR deficiency; Homocysteinemia due to methylenetetrahydro-folate reductase deficiency; Homocysteinuria due to methylenetetrahydro-folate reductase deficiency; Homocystinuria due to MTHFR deficiency; Methylenetetrahydro-folate reductase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Methylenetetrahydrofolate reductase deficiency is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults. In the classic form, both thermostable and thermolabile enzyme variants have been identified (Rosenblatt et al., 1992). [from OMIM]

Available tests

86 tests are in the database for this condition.

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Clinical tests (86 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: , MTHFR
    Summary: methylenetetrahydrofolate reductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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