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Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.

Ljubica Caldovic, Hiroki Morizono, Yevgeny Daikhin, Itzhak Nissim, Robert J McCarter, Marc Yudkoff, Mendel Tuchman
Journal of Pediatrics 2004 October
In a patient with N-acetylglutamate synthase (NAGS) deficiency, incorporation of an isotopic label from ammonium chloride into urea was markedly reduced before treatment with N-carbamyl-L-glutamate (NCLG) and completely normalized following treatment. Blood ammonia rose following ammonium tracer ingestion before treatment but remained low following treatment. Serum urea concentration doubled following the treatment.

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