{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:09:35Z","timestamp":1771002575919,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2002,8,13]],"date-time":"2002-08-13T00:00:00Z","timestamp":1029196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Mass Spectrom."],"published-print":{"date-parts":[[2002,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dihydropyrimidine dehydrogenase (DHPDase), dihydropyrimidinase (DHPase) and \u03b2\u2010ureidopropionase (\u03b2UPase) are the enzymes that catalyze the first, second, and third steps of the degradation of pyrimidines, respectively. \u03b2\u2010Ureidopropionate (\u03b2UP) and \u03b2\u2010ureidoisobutyrate (\u03b2UIB) are increased in the urine of patients with \u03b2UPase deficiency. The original case in which \u03b2UPase deficiency was discovered by NMR spectroscopy was an 11\u2010month\u2010old patient who presented with hypotonia and dystonic movement. We detected a second but asymptomatic case during a pilot study of neonatal screening with filter\u2010paper urine, urease pretreatment and gas chromatography\/mass spectrometry (GC\/MS). The urease pretreatment of urine without fractionation resulted in a high recovery of these polar ureide compounds and allowed the highly sensitive GC\/MS detection and diagnosis of \u03b2UPase deficiency. \u03b2UP and \u03b2UIB were identified using GC\/MS techniques. In the urine of the neonate with \u03b2UPase deficiency, \u03b2UP and \u03b2UIB were persistently increased. Thymine, 5,6\u2010dihydrothymine and 5,6\u2010dihydrouracil were increased only moderately but significantly. It is known that thymine and uracil increase markedly in DHPDase deficiency, and 5,6\u2010dihydrothymine and 5,6\u2010dihydrouracil increase in DHPase deficiency. Therefore, \u03b2UPase deficiency can be differentially diagnosed from the first and second enzyme deficiencies. Application of this specific and sensitive diagnostic procedure will lead to an understanding of the clinical heterogeneity of \u03b2UPase deficiency. Furthermore, the identification of patients with defects in pyrimidine metabolism will enable doctors to avoid cancer chemotherapy with pyrimidine analogues such as 5\u2010fluorouracil, which could be dangerous for these patients. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/jms.354","type":"journal-article","created":{"date-parts":[[2002,10,8]],"date-time":"2002-10-08T23:22:36Z","timestamp":1034119356000},"page":"954-962","source":"Crossref","is-referenced-by-count":28,"title":["Screening and diagnosis of \u03b2\u2010ureidopropionase deficiency by gas chromatographic\/mass spectrometric analysis of 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