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.
MONDO:0002254
syndromic disease
is_a
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
Arakawa syndrome II
exact
Arakawa's syndrome 2
exact
Arakawa's syndrome II
exact
N5-methylhomocysteine transferase deficiency
related
homocystinuria-megaloblastic Anemia, cblG complementation type
exact
methionine synthase deficiency
exact
methylcobalamin deficiency, cblG type
exact
tetrahydrofolate methyltransferase deficiency
exact
tetrahydrofolate-methyltransferase deficiency syndrome
related