title: Automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography.
abstract: An automated screening system for purine and pyrimidine metabolism disorders using high-performance liquid chromatography (HPLC) with column switching is described. The system consists of a reversed-phase column, a cation-exchange column, a column switch, four sets of ultraviolet absorbance detectors, a microcomputer and other conventional equipment. As this system permits the simultaneous determination of urinary orotic acid, uracil, dihydrouracil, pseudouridine, xanthine, 2,8-dihydroxyadenine and succinyladenosine, it offers a useful method for the detection of orotic aciduria, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinuria, xanthinuria, adenine phosphoribosyltransferase deficiency and adenylosuccinase deficiency.
authors.affiliation: Department of Pediatrics, Nagoya City Child Welfare Center, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Sumi
authors.forename: K
authors.initials: K
authors.lastname: Kidouchi
authors.forename: S
authors.initials: S
authors.lastname: Ohba
authors.forename: Y
authors.initials: Y
authors.lastname: Wada
mesh_terms: D000225:Adenine / Q000031:analogs & derivatives / Q000652:urine; D000241:Adenosine / Q000031:analogs & derivatives / Q000652:urine; D001322:Autoanalysis; D002851:Chromatography, High Pressure Liquid / Q000379:methods* / Q000592:standards; D006801:Humans; D009963:Orotic Acid / Q000652:urine; D011560:Pseudouridine / Q000652:urine; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D014498:Uracil / Q000031:analogs & derivatives / Q000652:urine; D019820:Xanthine; D014970:Xanthines / Q000652:urine
chemical_list: D014970:Xanthines; C007419:dihydrouracil; D011560:Pseudouridine; D019820:Xanthine; C002993:2,8-dihydroxyadenine; C043565:succinyladenosine; D014498:Uracil; D009963:Orotic Acid; D000225:Adenine; D000241:Adenosine