Arakawa syndrome 2


JABL: An inborn error of methylcobalamin metabolism with a deficiency of the enzyme tetrahydrofolate-methyltransferase (E.C. causing megaloblastic anemia, moderate to severe developmental delay, lethargy, anorexia, and homocystinuria.,NCI: A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.

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