Article
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.
Human mutation - 1 Oct 2011
Heibel Sandra K, Ah Mew Nicholas, Caldovic Ljubica, Daikhin Yevgeny, Yudkoff Marc, Tuchman Mendel
Abstract excerpt
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 undiagnosed for 8 years in spite of multiple molecular and biochemical investigations, showed markedly enhanced...
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