Hyperammonemia associated with N-acetylglutamate synthase deficiency

Hyperammonemia associated with N-acetylglutamate synthase (NAGS) deficiency is a life-threatening metabolic complication of an ultrarare, autosomal recessive urea cycle disorder The condition stems from pathogenic variants in the *NAGS* gene that disrupt production of N-acetylglutamate, the requisite allosteric activator of carbamoyl phosphate synthetase 1, thereby crippling hepatic ureagenesis and blocking the conversion of neurotoxic waste nitrogen into urea This enzymatic failure allows ammon...

Hyperammonemia associated with N-acetylglutamate synthase (NAGS) deficiency is a life-threatening metabolic complication of an ultrarare, autosomal recessive urea cycle disorder

The condition stems from pathogenic variants in the *NAGS* gene that disrupt production of N-acetylglutamate, the requisite allosteric activator of carbamoyl phosphate synthetase 1, thereby crippling hepatic ureagenesis and blocking the conversion of neurotoxic waste nitrogen into urea This enzymatic failure allows ammonia to accumulate rapidly within the bloodstream and central nervous system across neonatal, pediatric, or adult populations Clinically, affected individuals experience acute or c...

Clinically, affected individuals experience acute or chronic neurological deterioration marked by poor feeding, vomiting, progressive lethargy, seizures, encephalopathy, cerebral edema, and potentially fatal hyperammonemic coma