/arakawa syndrome 2

arakawa syndrome 2

Rare Disease

MONDO:0021915

Also Known As

Arakawa syndrome IIArakawa's syndrome 2Arakawa's syndrome IIhomocystinuria-megaloblastic Anemia, cblG complementation typemethionine synthase deficiencymethylcobalamin deficiency, cblG typetetrahydrofolate methyltransferase deficiencyN5-methylhomocysteine transferase deficiencytetrahydrofolate-methyltransferase deficiency syndrome

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.