arakawa syndrome 2
MONDO:0021915Mondo
Findings
No curated finding names arakawa syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0021915), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
7 names
Resolves to: arakawa syndrome 2
- Also called
- Arakawa syndrome IIArakawa's syndrome 2Arakawa's syndrome IIhomocystinuria-megaloblastic Anemia, cblG complementation typemethionine synthase deficiencymethylcobalamin deficiency, cblG typetetrahydrofolate methyltransferase deficiency