Arakawa syndrome 2

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.

Also known as: Arakawa syndrome II, Arakawa's syndrome 2, Arakawa's syndrome II, homocystinuria-megaloblastic Anemia, cblG complementation type, methionine synthase deficiency, methylcobalamin deficiency, cblG type, tetrahydrofolate methyltransferase deficiency, N5-methylhomocysteine transferase deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Arakawa syndrome 2 itself.