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Article

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Human mutation - 1 Mar 2005

Caldovic Ljubica, Morizono Hiroki, Panglao Maria G, Lopez Giselle Y, Shi Dashuang, Summar Marshall L, Tuchman Mendel

Abstract excerpt

N-acetylglutamate (NAG) is a unique cofactor that is essential for the conversion of ammonia to urea in the liver. N-acetylglutamate synthase (NAGS) catalyzes the formation of NAG. Deficiency of NAGS causes a block in ureagenesis resulting in hyperammonemia. Although a number of mutations have been identified in the NAGS gene, their effects on NAGS enzymatic activity have not been examined. We describe here three...

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Identifiers

PMID: 15714518
DOI: 10.1002/humu.20146

Genes

NAGS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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