What are the types of homocystinuria?
What are the types of homocystinuria?
Homocystinuria type-I-
Due to the deficiency of cystathionine ß synthase, Most common inborn error of methionine metabolism.
homocystinuria type-II –
Homocystinuria due to defect in methylcobalamin formation, Characterized by the triad of megaloblastic anemia, Homocystinuria and hypomethionemia.
Homocystinuria type-III-
Deficiency of the enzyme methyltetrahydrofolate reductase, Characterized by homocystinemia,homocystinuria, Low-low normal levels of methionine