homocystinuria-megaloblastic anemia cblG type

Term ID

DOID:0112256

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. (2)

References

• GARD:3577
• OMIM:250940
• ORDO:2170

Ontology

Human Disease   ( DOID:0112256 )