Human genes for glutamate-cysteine ligase deficiency
Glutamate-cysteine ligase deficiency [DOID:0111681]
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.
Synonyms: glutamate-cysteine ligase deficiency, DOID:0111681, glutamatecysteine ligase deficiency, glutamate-cysteine ligase deficiencies, gamma-glutamylcysteine synthetase deficiency ...