| Metadata | |
|---|---|
| ID | DOID:0111681 |
| Name | glutamate-cysteine ligase 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. https://www.ncbi.nlm.nih.gov/pubmed/10515893, https://www.ncbi.nlm.nih.gov/pubmed/5058793 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
gamma-glutamylcysteine synthetase deficiency [EXACT] hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency [EXACT] |
| Parent Relationships |