Term Name: | glutamate-cysteine ligase deficiency |
---|---|
Synonyms: | gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency |
Definition: | 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 the GCLC gene on chromosome 6p12.1. |
Ontology: | Human Disease [DOID:0111681] ( DOID:0111681 ) |