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N-acetylglutamate synthase deficiency
Summary
- Synonym
-
- N-acetyl glutamate synthetase deficiency
- N-acetylglutamate synthetase deficiency
- NAG synthetase deficiency
- NAGS deficiency
- hyperammonemia due to N-acetylglutamate synthase deficiency
- Definition
- A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31.
- Super Class
- autosomal recessive disease urea cycle disorder
External Links
- Disease Ontology
- DOID:0112258
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
