Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
Annals of Neurology
Publication types: Case Reports
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.
Acetyltransferases/deficiency, Acetyltransferases/genetics, Amino Acid Sequence/genetics, Amino-Acid N-Acetyltransferase, Animals, Brain Diseases, Metabolic, Inborn/drug therapy, Brain Diseases, Metabolic, Inborn/enzymology, Child, Preschool, Female, Glutamates/therapeutic use, Humans, Hyperammonemia/drug therapy, Hyperammonemia/enzymology, Male, Mice, Molecular Sequence Data, Mutation/genetics, Sequence Homology, Amino Acid
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