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

ABSTRACT:

Background

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 mortality. Since its recognition in 1981, NAGS deficiency has been treated with carbamylglutamate with or without other measures (nutritional, ammonia scavengers, dialytic, etc.). We conducted a systematic literature review of NAGS deficiency to summarize current knowledge around presentation and management.

Methods

Case reports and case series were identified using the Medline database, as well as references from other articles and a general internet search. Clinical data related to presentation and management were abstracted by two reviewers.

Results</

SUBMITTER: Kenneson A 

PROVIDER: S-EPMC7545900 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature