N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy

N‐acetylglutamate synthase (NAGS) catalyzes the conversion of glutamate and acetyl‐CoA to NAG, the essential allosteric activator of carbamyl phosphate synthetase I, the first urea cycle enzyme in mammals. A 17‐year‐old female with recurrent hyperammonemia attacks, the cause of which remained undiag...

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