title: Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism: a selective approach.
abstract: We developed a capillary electrophoresis method as a diagnostic tool for purine and pyrimidine metabolic disorders. Optimal conditions allowed the separation of the major diagnostic metabolites in urine samples within an analysis time of 10 min and with a separation efficiency of about 350,000 theoretical plates/m. The diagnostically important metabolites (adenine, adenosine, 2-deoxyadenosine, 2-deoxyguanosine, 2,8-dihydroxyadenine, guanosine, hypoxanthine, orotidine, orotic acid, and creatinine) were detectable at concentrations of 1.0-5.7 micromol/L. The method gives a linear calibration curve for tested purine and pyrimidine derivatives within the range of 5-500 micromol/L (r > 0.996) The coefficients of variation for the within- and between-day imprecisions were less than 3.2 and 5.8%, respectively. Characteristic abnormalities were detected in the electropherograms of urine samples from patients with purine and pyrimidine enzyme deficiencies. We provide electrophoretic and spectral characteristics of intermediates in purine and pyrimidine metabolism and possible artifacts from medication and their UV-absorbing compounds. Our method allows the detection of the majority of inborn errors of purine and pyrimidine metabolism.
authors.affiliation: Department of Analytical Chemistry, Palacký University, Olomouc, Czech Republic.
authors.forename: David
authors.initials: D
authors.lastname: Friedecký
authors.forename: Tomás
authors.initials: T
authors.lastname: Adam
authors.forename: Petr
authors.initials: P
authors.lastname: Barták
mesh_terms: D000293:Adolescent; D002138:Calibration; D002648:Child; D002675:Child, Preschool; D019719:Diagnostic Equipment / Q000592:standards; D019075:Electrophoresis, Capillary / Q000379:methods* / Q000592:standards; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology; D011687:Purines / Q000652:urine; D011743:Pyrimidines / Q000652:urine; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D011687:Purines; D011743:Pyrimidines