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Up to: Syndromic disease · Inborn disorder of amino acid metabolism
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.
This condition has no sub-types.