title: Screening method for inherited disorders of purine and pyrimidine metabolism by capillary electrophoresis with reversed electroosmotic flow.
abstract: Capillary electrophoresis with electroosmotic flow reversed by cationic surfactant for diagnosis of purine and pyrimidine inherited enzyme deficiencies is reported. Final separation conditions consist of 45 mM borate, 55 mM N-tris[hydroxymethyl]methylglycine, 10 mM tartrate, 1 mM cetyltrimethylammonium bromide and 0.44% tetrabutylammonium hydroxide-2-amino-2-methyl-1,3-propanediol (pH 8.6). Average sensitivity (2.51 microM), reproducibility of migration times (run-to-run C.V. < or = 0.6%, day-to-day C.V. < or = 2.5%), linearity (R2>0.994) and imprecision (mean intra-assay RSD 4.7% and inter-assay RSD 6.6%) of the method are acceptable for diagnostic purposes. Applicability of the method is demonstrated on urine samples from patients with enzymatically proven enzyme deficiencies.
authors.affiliation: Laboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, Medical Hospital Olomouc, Czech Republic. tomasadam@email.cz
authors.forename: Tomás
authors.initials: T
authors.lastname: Adam
authors.forename: Pavel
authors.initials: P
authors.lastname: Lochman
authors.forename: David
authors.initials: D
authors.lastname: Friedecký
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D011687:Purines / Q000652:urine*; D011743:Pyrimidines / Q000652:urine*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
chemical_list: D011687:Purines; D011743:Pyrimidines; C030986:pyrimidine; C030985:purine