|Name||N-acetylglutamate synthase (NAGS) deficiency|
|Description||N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator of the first urea cycle enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical features of NAGS deficiency include poor feeding, vomiting, altered level of consciousness, seizures, and coma.|
|Category||Inherited metabolic disease|
|Gene||NAGS [HSA:162417] [KO:K11067]|
|Marker||Plasma Ammonia [CPD:C00014] and Glutamine [CPD:C00064] are increased.
Other urea-cycle intermediates are low to normal.
Urinary Orotic acid [CPD:C00295] is not elevated.
|Drug||Carglumic acid [DR:D07130]|
|Other DBs||ICD-10: E72.2
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M
N-acetylglutamate synthase: structure, function and defects.
Mol Genet Metab 100 Suppl 1:S13-9 (2010)
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
Ther Clin Risk Manag 7:327-32 (2011)