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  • Title: N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
    Author: Elpeleg O, Shaag A, Ben-Shalom E, Schmid T, Bachmann C.
    Journal: Ann Neurol; 2002 Dec; 52(6):845-9. PubMed ID: 12447942.
    Abstract:
    Carbamylphosphate synthase is the first enzymatic reaction of the urea cycle. Its activator, N-acetylglutamate, is synthesized from acetyl-CoA and glutamate in a reaction catalyzed by N-acetylglutamate synthase (NAGS). We have identified the putative human NAGS gene and report the first mutation in this gene in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. Mutation analysis has a higher diagnostic specificity than the enzymatic assay in NAGS deficiency. A therapeutic trial with carbamylglutamate is recommended whenever hyperammonemia without an organic aciduria, increased orotate excretion, or diagnostic amino acidemia/uria is detected.
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