{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:22:04Z","timestamp":1747149724374,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,7,22]],"date-time":"2022-07-22T00:00:00Z","timestamp":1658448000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>N\u2010acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life\u2010threatening episodes of hyperammonaemia, both in the neonatal period and also at subsequent times of catabolic stress. Because NAGS generates the cofactor for CPS1, these two disorders are difficult to distinguish biochemically. However, there have now been numerous case reports of 3\u2010methylglutaconic aciduria (3\u2010MGA), a marker seen in mitochondrial disorders, occurring in CPS1 deficiency. Previously, this had not been reported in NAGS deficiency. We report a four\u2010day\u2010old neonate who was noted to have 3\u2010MGA at the time of significant hyperammonaemia and lactic acidosis. Low plasma citrulline and borderline orotic aciduria were additional findings that suggested a proximal urea cycle disorder. Subsequent molecular testing identified bi\u2010allelic pathogenic variants in <jats:italic>NAGS<\/jats:italic>. The 3\u2010MGA was present at the time of persistent lactic acidosis, but improved with normalization of serum lactate, suggesting that it may reflect secondary mitochondrial dysfunction. NAGS deficiency should therefore also be considered in patients with hyperammonaemia and 3\u2010MGA. Studies in larger numbers of patients are required to determine whether it could be a biomarker for severe decompensations.<\/jats:p>","DOI":"10.1002\/jmd2.12318","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T01:14:00Z","timestamp":1658538840000},"page":"420-424","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["N\u2010acetylglutamate synthase deficiency with associated 3\u2010methylglutaconic aciduria: A case report"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3073-2555","authenticated-orcid":false,"given":"Arthavan","family":"Selvanathan","sequence":"first","affiliation":[{"name":"Queensland Lifespan Metabolic Medicine Service Queensland Children's Hospital  Brisbane Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalliope","family":"Demetriou","sequence":"additional","affiliation":[{"name":"Queensland 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