Term Name:	homocystinuria-megaloblastic anemia cblG type
Synonyms:	HMAG, homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type, homocystinuria-megaloblastic anemia, cblG complementation type, methylcobalamin deficiency, cblG type
Definition:	An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43.
Ontology:	Human Disease [DOID:0112256]   ( DOID:0112256 )