Search Ontology:
Human Disease
homocystinuria-megaloblastic anemia cblG type
- Term ID
- DOID:0112256
- Synonyms
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- 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. (2)
- References
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- GARD:3577
- MIM:250940
- ORDO:2170
- Ontology
- Human Disease ( DOID:0112256 )
- is a type of
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