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glutamate-cysteine ligase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111681
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
