glutamate-cysteine ligase deficiency
An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in GCLC on chromosome 6p12.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
glutamate-cysteine ligase deficiency
- gamma-glutamylcysteine synthetase deficiency
- hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
- OMIM:230450
- MESH:C565557
- ORDO:33574
- UMLS_CUI:C1856603
disease_ontology
DOID:0111681