Homocystinuria due to MTHFR Deficiency

Homocystinuria due to MTHFR Deficiency [MTHFR]: 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 14 thermolabile enzyme variants have been identified.

Sephardic-Mizrahi Jewish Carrier Frequency: 1 in 39