Format

Send to

Choose Destination
Ann Neurol. 2002 Dec;52(6):845-9.

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

Author information

1
The Metabolic Disease Unit, Faculty of Medicine, Shaare-Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel. elpeleg@cc.huji.ac.il

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.

PMID:
12447942
DOI:
10.1002/ana.10406
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center