|Name||N-acetylglutamate synthase 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|
|Network||nt06010 Urea cycle
ELEMENT N00600 NAGS deficiency in urea cycle
|Gene||NAGS [HSA:162417] [KO:K11067]|
|Drug||Carglumic acid [DR:D07130]|
|Other DBs||ICD-11: 5C50.AY
AUTHORS Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M
TITLE N-acetylglutamate synthase: structure, function and defects.
JOURNAL Mol Genet Metab 100 Suppl 1:S13-9 (2010)
AUTHORS Haberle J
TITLE Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
JOURNAL Ther Clin Risk Manag 7:327-32 (2011)