Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity - CISMeF
Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activityOMIM Phenotype
Preferred Label : Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Methylenetetrahydrofolate reductase deficiency; Mthfr deficiency;
Included titles and symbols : Mthfr deficiency, thermolabile type;
Description : 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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutations in the N(5,10)-methylenetetrahydrofolate reductase gene (MTHFR,
607093.0001);
Laboratory abnormalities : Methylenetetrahydrofolate reductase deficiency; Low to normal plasma methionine; Homocystinemia; Homocystinuria;