homocystinuria-megaloblastic anemia cblG type (DOID:0112256)
Alliance: disease page
Synonyms: HMAG; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; homocystinuria-megaloblastic anemia, cblG complementation type; methylcobalamin deficiency, cblG type
Alt IDs: OMIM:250940, ORDO:2170
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.