Arakawa syndrome 2
Arakawa syndrome 2
Definition
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 — per MONDO