arakawa syndrome 2
http://purl.obolibrary.org/obo/MONDO_0021915
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. [ NCIT:C99081 ]
Term info
- NCIT:C99081 (MONDO:equivalentTo)
- SCTID:89579000 (MONDO:equivalentTo)
- MESH:C537426 (MONDO:equivalentTo)
- UMLS:C0268611 (NCIT:C99081)
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.
http://linkedlifedata.com/resource/umls/id/C0268611, http://identifiers.org/mesh/C537426, http://purl.obolibrary.org/obo/NCIT_C99081, http://identifiers.org/snomedct/89579000
methionine synthase deficiency, Arakawa's syndrome 2, homocystinuria-megaloblastic Anemia, cblG complementation type, methylcobalamin deficiency, cblG type, tetrahydrofolate methyltransferase deficiency, Arakawa's syndrome II, Arakawa syndrome II
tetrahydrofolate-methyltransferase deficiency syndrome, N5-methylhomocysteine transferase deficiency
MONDO:0021915