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Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism: A selective approach
Author(s) -
Friedecký David,
Adam Tomáš,
Barták Petr
Publication year - 2002
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/1522-2683(200202)23:4<565::aid-elps565>3.0.co;2-s
Subject(s) - purine , purine metabolism , chemistry , pyrimidine , pyrimidine metabolism , capillary electrophoresis , orotic acid , biochemistry , chromatography , deoxyguanosine , metabolite , purine nucleoside phosphorylase , enzyme , dna
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 νmol/L. The method gives a linear calibration curve for tested purine and pyrimidine derivatives within the range of 5–500 νmol/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.