title: A pivotal role for beta-aminoisobutyric acid and oxidative stress in dihydropyrimidine dehydrogenase deficiency?
abstract: Dihydropyrimidine dehydrogenase (DPD) constitutes the first step of the pyrimidine degradation pathway in which the pyrimidine bases uracil and thymine are catabolised to beta-alanine and beta-aminoisobutyric acid (beta-AIB), respectively. The mean concentration of beta-AIB was approximately 5- to 8-fold lower in urine of patients with a DPD deficiency, when compared to age-matched controls. Comparable levels of 8-hydroxydeoxyguanosine (8-OHdG) were present in urine from controls and DPD patients at the age <2 year. In contrast, slightly elevated levels of 8-OHdG were detected in urine from DPD patients with an age >2 year, suggesting the presence of increased oxidative stress.
authors.affiliation: Academic Medical Center, University of Amsterdam, Emma Children's Hospital and Department of Clinical Chemistry, Amsterdam, The Netherlands. a.b.vankuilenburg@amc.uva.nl
authors.forename: A B P
authors.initials: AB
authors.lastname: van Kuilenburg
authors.forename: A E M
authors.initials: AE
authors.lastname: Stroomer
authors.forename: N G G M
authors.initials: NG
authors.lastname: Abeling
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D000080242:8-Hydroxy-2'-Deoxyguanosine; D000621:Aminoisobutyric Acids / Q000378:metabolism* / Q000652:urine*; D016022:Case-Control Studies; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D003849:Deoxyguanosine / Q000031:analogs & derivatives / Q000737:chemistry; D054067:Dihydropyrimidine Dehydrogenase Deficiency; D004563:Electrochemistry / Q000379:methods; D006801:Humans; D007223:Infant; D018384:Oxidative Stress; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics
chemical_list: D000621:Aminoisobutyric Acids; D000080242:8-Hydroxy-2'-Deoxyguanosine; D003849:Deoxyguanosine; C033435:3-aminoisobutyric acid