Article
Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Human mutation - 1 Jun 2003
Häberle Johannes, Schmidt Eva, Pauli Silke, Kreuder Joachim Gerhard, Plecko Barbara, Galler Axel, Wermuth Benedicht, Harms Erik, Koch Hans Georg
Abstract excerpt
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 detoxification. NAGS deficiency is a rare inborn error of metabolism inherited as an autosomal recessive trait...
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