N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.

Détails

ID Serval
serval:BIB_25840
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
Périodique
Annals of Neurology
Auteur⸱e⸱s
Elpeleg O., Shaag A., Ben-Shalom E., Schmid T., Bachmann C.
ISSN
0364-5134
Statut éditorial
Publié
Date de publication
2002
Volume
52
Numéro
6
Pages
845-849
Langue
anglais
Notes
Publication types: Case Reports
Résumé
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.
Mots-clé
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
Pubmed
Web of science
Création de la notice
19/11/2007 12:22
Dernière modification de la notice
20/08/2019 13:04
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