Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes
Ljubica Caldovic,
Julie J. Ahn,
Jacklyn Andricovic
et al.
Abstract:Ammonia, which is toxic to the brain, is converted into non‐toxic urea, through a pathway of six enzymatically catalyzed steps known as the urea cycle. In this pathway, N‐acetylglutamate synthase (NAGS, EC 2.3.1.1) catalyzes the formation of N‐acetylglutamate (NAG) from glutamate and acetyl coenzyme A. NAGS deficiency (NAGSD) is the rarest of the urea cycle disorders, yet is unique in that ureagenesis can be restored with the drug N‐carbamylglutamate (NCG). We investigated whether the rarity of NAGSD could be … Show more
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