| Metadata | |
|---|---|
| ID | DOID:0112256 |
| Name | homocystinuria-megaloblastic anemia 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. https://pubmed.ncbi.nlm.nih.gov/8968737/, https://pubmed.ncbi.nlm.nih.gov/3384945/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HMAG [EXACT] homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type [EXACT] homocystinuria-megaloblastic anemia, cblG complementation type [EXACT] methylcobalamin deficiency, cblG type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |