# N-Acetylglutamate synthase deficiency

> N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia

**Wikidata**: [Q6951345](https://www.wikidata.org/wiki/Q6951345)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/N-Acetylglutamate_synthase_deficiency)  
**Source**: https://4ort.xyz/entity/n-acetylglutamate-synthase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/33dcead1-e3d9-4427-98fd-05a655c8c213--2019-07-26T17:02:06)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/33dcead1-e3d9-4427-98fd-05a655c8c213--2019-07-26T16:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_33dcead1-e3d9-4427-98fd-05a655c8c213-2019-07-26T160000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000161653/MONDO_0009377)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000161653/Orphanet_927)