Presentation and management of N -acetylglutamate synthase deficiency: a review of the literature | Orphanet Journal of Rare Diseases | Full Text

Presentation and management of N -acetylglutamate synthase deficiency: a review of the literature | Orphanet Journal of Rare Diseases | Full Text

Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and.....

Authors:Aileen Kenneson and Rani H. Singh

Citation:Orphanet Journal of Rare Diseases 2020 15:279

Content type:Review

 

Published on: 9 October 2020

• ViewFull Text
 
• ViewPDF