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In this pathway, N\u2010acetylglutamate synthase (NAGS, EC 2.3.1.1) catalyzes the formation of N\u2010acetylglutamate (NAG) from glutamate and acetyl coenzyme A. <jats:italic>NAGS<\/jats:italic> deficiency (NAGSD) is the rarest of the urea cycle disorders, yet is unique in that ureagenesis can be restored with the drug N\u2010carbamylglutamate (NCG). We investigated whether the rarity of NAGSD could be due to low sequence variation in the NAGS genomic region, high NAGS tolerance for amino acid replacements, and alternative sources of NAG and NCG in the body. We also evaluated whether the small genomic footprint of the NAGS catalytic domain might play a role. The small number of patients diagnosed with NAGSD could result from the absence of specific disease biomarkers and\/or short NAGS catalytic domain. We screened for sequence variants in <jats:italic>NAGS<\/jats:italic> regulatory regions in patients suspected of having NAGSD and found a novel <jats:italic>NAGS<\/jats:italic> regulatory element in the first intron of the <jats:italic>NAGS<\/jats:italic> gene. We applied the same datamining approach to identify regulatory elements in the remaining urea cycle genes. In addition to the known promoters and enhancers of each gene, we identified several novel regulatory elements in their upstream regions and first introns. The identification of <jats:italic>cis<\/jats:italic>\u2010regulatory elements of urea cycle genes and their associated transcription factors holds promise for uncovering shared mechanisms governing urea cycle gene expression and potentially leading to new treatments for urea cycle disorders.<\/jats:p>","DOI":"10.1002\/jimd.12687","type":"journal-article","created":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T18:40:01Z","timestamp":1697568001000},"page":"1175-1193","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Datamining approaches for examining the low prevalence of N\u2010acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9140-5585","authenticated-orcid":false,"given":"Ljubica","family":"Caldovic","sequence":"first","affiliation":[{"name":"Center for Genetic Medicine 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