N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

Abstract N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life‐threatening episodes of hyperammonaemia, both in the neonatal period...

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Bibliographic Details
Main Authors: Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill
Format: Article
Language:English
Published: Wiley 2022-09-01
Series:JIMD Reports
Subjects:
3‐methylglutaconic aciduria
mitochondrial dysfunction
N‐acetylglutamate synthase deficiency
Urea cycle disorder
Online Access:https://doi.org/10.1002/jmd2.12318

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