{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T17:13:40Z","timestamp":1793466820501,"version":"4.5.0"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The pyrimidines, uracil and thymine, are degraded in four steps. The first three steps of pyrimidine catabolism, controlled by enzymes shared by both pathways, result in the production of the neurotransmitter amino acid \u03b2\u2010alanine from uracil and the nonfunctional (R)\u2010(\u2010)\u2010\u03b2\u2010aminoisobutyrate from thymine. The fourth step is controlled by several aminotransferases, which have different affinities for \u03b2\u2010alanine, \u03b2\u2010aminoisobutyrate and GABA. Defects concerning the first three steps all lead to a reduced production of \u03b2\u2010alanine; defects of the transaminases involving the metabolism of \u03b2\u2010alanine and GABA lead to accumulation of these neurotransmitter substances. In addition, other metabolites will accumulate or be reduced depending on the specific enzyme defect. Analysis of the abnormal concentrations of these metabolites in the body fluids is essential for the detection of patients with pyrimidine degradation defects. Clinically these disorders are often overlooked because symptomatology is highly aspecific. The growth in our knowledge concerning inborn errors of pyrimidine degradation has emphasized the importance of the clinical awareness of these defects as a possible cause of neurological disease and a contraindication for treatment of cancer patients with certain pyrimidine analogues. The various defects are discussed and attention is paid to clinical, genetic and diagnostic aspects.<\/jats:p>","DOI":"10.1023\/a:1005356806329","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"203-213","source":"Crossref","is-referenced-by-count":93,"title":["Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects"],"prefix":"10.1002","volume":"20","author":[{"given":"A.H.","family":"van Gennip","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry Academic Medical Center, University of Amsterdam  PO Box 2270, 11DE Amsterdam F0\u2010224 The Netherlands"},{"name":"Departments of Pediatrics and Clinical Chemistry, Academic Medical Center University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.G.G.M.","family":"Abeling","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Chemistry, Academic Medical Center University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Vreken","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Chemistry, Academic Medical Center University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.B.P.","family":"van Kuilenburg","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Clinical Chemistry, Academic Medical Center University of Amsterdam  Amsterdam The 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