Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate
β Scribed by Ljubica Caldovic; Hiroki Morizono; Yevgeny Daikhin; Itzhak Nissim; Robert J. McCarter; Marc Yudkoff; Mendel Tuchman
- Book ID
- 116682870
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 121 KB
- Volume
- 145
- Category
- Article
- ISSN
- 1097-6833
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π SIMILAR VOLUMES
N-acetylglutamate synthase (NAGS) is the key enzyme for the regulation of the hepatic urea cycle and is also highly expressed in kidney and gut. The reaction product, N-acetylglutamate, is an allosteric activator of carbamylphosphate synthetase 1 in the liver, catalyzing the initial step of ammonia
N-acetylglutamate (NAG) is a unique cofactor that is essential for the conversion of ammonia to urea in the liver. N-acetylglutamate synthase (NAGS) catalyzes the formation of NAG. Deficiency of NAGS causes a block in ureagenesis resulting in hyperammonemia. Although a number of mutations have been