NAGS encodes N-acetylglutamate synthase (534 aa). Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity Highest expression in Liver (39.8 TPM) and Cells Cultured fibroblasts (17.8 TPM).

Hyperammonemia due to N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene on chromosome 17.

The NAGS protein participates in NAGS variants cause NAGS deficiency and Diseases of the urea cycle pathways.

NAGS is classified as a druggable target (Enzyme category) with score 26.1.

Genetic testing for NAGS is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperammonemia due to N-acetylglutamate synthase deficiency has been reported in the published literature.

1 FDA-approved treatment is available for hyperammonemia due to N-acetylglutamate synthase deficiency, including CARGLUMIC ACID (CARBAGLU, approved 2010).

Approved Therapies

Gene therapy approaches for hyperammonemia due to N-acetylglutamate synthase deficiency have been reported in the published literature.

Phenotype severity distribution: 7 always present features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

2 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

9 publications have been identified in PubMed for hyperammonemia due to N-acetylglutamate synthase deficiency. Research spans Review / Meta-Analysis (44%), Diagnostic / Biomarker (11%), and Case Report / Case Series (11%).

Recent Publications

• Nagel E (2026). [PMID: 41934378](https://pubmed.ncbi.nlm.nih.gov/41934378/). *Personalized medicine*. [Review / Meta-Analysis]

• Ah Mew N (2025). [PMID: 40976841](https://pubmed.ncbi.nlm.nih.gov/40976841/). *Paediatric drugs*. [Review / Meta-Analysis]

• Fenves AZ (2025). [PMID: 41002957](https://pubmed.ncbi.nlm.nih.gov/41002957/). *Metabolites*. [Review / Meta-Analysis]

• Thaver S (2025). [PMID: 41430122](https://pubmed.ncbi.nlm.nih.gov/41430122/). *BMC pediatrics*. [Case Report / Case Series]

• Erdal R (2025). [PMID: 40710547](https://pubmed.ncbi.nlm.nih.gov/40710547/). *Metabolites*. [Review / Meta-Analysis]

• Singh RH (2024). [PMID: 38637895](https://pubmed.ncbi.nlm.nih.gov/38637895/). *Orphanet journal of rare diseases*. [Gene Therapy / Novel Therapeutics]

• Gougeard N (2024). [PMID: 38740568](https://pubmed.ncbi.nlm.nih.gov/38740568/). *Journal of inherited metabolic disease*. [Basic Science / Preclinical]

• Caldovic L (2024). [PMID: 37847851](https://pubmed.ncbi.nlm.nih.gov/37847851/). *Journal of inherited metabolic disease*. [Epidemiology / Natural History]

• Arabaci B (2024). [PMID: 39372016](https://pubmed.ncbi.nlm.nih.gov/39372016/). *ACS omega*. [Diagnostic / Biomarker]