Clinical Chemistry AACC Online Job Center
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 45: 2086-2093, 1999;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit an electronic Letter to
the Editor about this paper
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via ISI Web of Science (28)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Adam, T.
Right arrow Articles by Barták, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Adam, T.
Right arrow Articles by Barták, P.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Automation and Analytical Techniques
(Clinical Chemistry. 1999;45:2086-2093.)
© 1999 American Association for Clinical Chemistry, Inc.

Articles

Capillary Electrophoresis for Detection of Inherited Disorders of Purine and Pyrimidine Metabolism

Tomás Adam1,3,a, David Friedecky2, Lynette D. Fairbanks4, Juraj Sevík2,3 and Petr Barták2,3

1 Laboratory for Inherited Metabolic Disorders, Department of Clinical Biochemistry, Medical Hospital, I. P. Pavlova 6, 775 20 Olomouc, Czech Republic.

2 Department of Analytical Chemistry, Palacky University, Tída Svobody 8, 772 00 Olomouc, Czech Republic.

3 Laboratory of Bioanalytical Research, Palacky University, Tída Svobody 8, 771 26 Olomouc, Czech Republic.

4 Purine Research Laboratory, Guy’s and St. Thomas’s Medical and Dental School, London Bridge, London SE1 9RT, UK.
a Address correspondence to this author at: Laboratory for Inherited Metabolic Disorders, Medical Hospital, I. P. Pavlova 6, 775 20 Olomouc, Czech Republic. Fax 420-68-5416555; e-mail tomasadam{at}email.cz

Background: Measurement of purine and pyrimidine metabolites presents complex problems for separations currently performed by HPLC and thin-layer chromatography in clinical practice. We developed a novel capillary electrophoresis method for this purpose.

Methods: Separations were performed in 60 mmol/L borate-2-amino-2-methyl-1-propanol-80 mmol/L sodium dodecyl sulfate (pH 9.6) at 35 °C.

Results: The conditions reported allowed separation of all diagnostic metabolites from major urinary constituents in an analysis time of 3 min and with a separation efficiency of 220 000 theoretical plates/m. The clinically important metabolites were detectable at concentrations of 0.85–4.28 µmol/L. The method was linear over the range 5–500 µmol/L (r >0.99). The within-run and intra- and interday imprecision (CV) was <5%. Characteristic abnormalities were detected in the electropherograms of urine samples from patients with purine and pyrimidine enzyme deficiencies. We provide the electrophoretic and spectral characteristics of many intermediates in purine and pyrimidine metabolism and describe common artifacts from medication and ultraviolet-absorbing compounds.

Conclusion: Capillary electrophoresis is a valuable screening tool in the detection of inborn errors of purine and pyrimidine metabolism.




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
S. Hartmann, J. G. Okun, C. Schmidt, C.-D. Langhans, S. F. Garbade, P. Burgard, D. Haas, J. O. Sass, W. L. Nyhan, and G. F. Hoffmann
Comprehensive Detection of Disorders of Purine and Pyrimidine Metabolism by HPLC with Electrospray Ionization Tandem Mass Spectrometry
Clin. Chem., June 1, 2006; 52(6): 1127 - 1137.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
F. Carlucci, A. Tabucchi, A. Aiuti, F. Rosi, F. Floccari, R. Pagani, and E. Marinello
Capillary Electrophoresis in Diagnosis and Monitoring of Adenosine Deaminase Deficiency
Clin. Chem., November 1, 2003; 49(11): 1830 - 1838.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
T. Ito, A. B.P. van Kuilenburg, A. H. Bootsma, A. J. Haasnoot, A. van Cruchten, Y. Wada, and A. H. van Gennip
Rapid Screening of High-Risk Patients for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry of Liquid Urine or Urine-soaked Filter Paper Strips
Clin. Chem., April 1, 2000; 46(4): 445 - 452.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1999 by the American Association for Clinical Chemistry.