N-Acetylglutamate synthetase deficiency responding to carbamylglutamate


N-Acetylglutamate synthetase (NAGS, EC deÐciency (McKusick 237310) catalyses the synthesis of N-acetylglutamate (NAG), an obligatory activator of carbamyl phosphate synthetase, the Ðrst step in the urea cycle. To date, seven families with NAGS deÐciency have been reported (for a review see Gu†on et al 1995). The clinical picture varies throughout… (More)
DOI: 10.1023/A:1005344507536


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