Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism

Clinical Biochemistry

Volumn 38, Issue 11, 2005, Pages 997-1008

  Tavazzi, Barbara ^a   Lazzarino, Giuseppe ^b   Leone, Paola ^c   Amorini, Angela Maria ^b   Bellia, Francesco ^b   Janson, Christopher G ^d   Di Pietro, Valentina ^a   Ceccarelli, Lia ^a   Donzelli, Sonia ^b   Francis, Jeremy S ^d   Giardina, Bruno ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

^c Department of Anesthesiology   (United States)

^d UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

Author keywords

Biological fluids; Canavan disease; Chemical diagnosis; Dicarboxylic acids; HPLC; Inborn errors of metabolism; N acetylated amino acids; Prenatal and neonatal screening; Purines; Pyrimidines

Indexed keywords

1 METHYLURIC ACID; 3 METHYLADENINE; ADENINE; AMINO ACID DERIVATIVE; BUFFER; CREATININE; CYTIDINE; CYTOSINE; DICARBOXYLIC ACID; GUANOSINE; HYPOXANTHINE; INOSINE; MALONIC ACID; METHYLMALONIC ACID; N ACETYLASPARTIC ACID; N ACETYLASPARTYLGLUTAMIC ACID; N ACETYLGLUTAMIC ACID; OROTIC ACID; PSEUDOURIDINE; PURINE DERIVATIVE; PYRIMIDINE DERIVATIVE; REAGENT; TETRABUTYLAMMONIUM; THYMIDINE; THYMINE; UNINDEXED DRUG; URACIL; URIDINE; XANTHINE; XANTHOSINE;

AMNION FLUID; ANALYTIC METHOD; ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; BODY FLUID; CANAVAN DISEASE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DIODE; DNA MICROARRAY; HEMOCONCENTRATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INFANT; PARTICLE SIZE; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; SAMPLING; SCREENING; SEPARATION TECHNIQUE; ULTRAVIOLET SPECTROSCOPY; URINALYSIS; VALIDATION PROCESS;

ADOLESCENT; ADULT; AMINO ACIDS; AMNIOTIC FLUID; ASPARTIC ACID; CANAVAN DISEASE; CHILD; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DICARBOXYLIC ACIDS; HUMANS; INFANT; MASS SCREENING; METABOLISM, INBORN ERRORS; MIDDLE AGED; PRENATAL DIAGNOSIS; PURINES; PYRIMIDINES; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; SPECTROPHOTOMETRY, ULTRAVIOLET;

EID: 27744482480     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2005.08.002     Document Type: Article

References (40)

1. M.J. Bennet, and K.H. Carpenter Experience with a simple high performance liquid chromatography method for the analysis of purine and pyrimidine nucleosides and bases in biological fluids Ann. Clin. Biochem. 21 1984 131 136
2. R. Boulieu, C. Bory, P. Baltassat, and P. Divry Hypoxanthine and xanthine concentration determined by high performance liquid chromatography in biological fluids from patients with xanthinuria Clin. Chim. Acta 142 1984 83 89
3. G.S. Morris, H.A. Simmonds, and P.M. Davies Use of biological fluids for the rapid diagnosis of potentially lethal inherited disorders of human purine and pyrimidine metabolism Biomed. Chromatogr. 3 1986 109 118
4. T. Kojima, T. Nishina, M. Kitamura, N. Kamatani, and K. Nishioka Liquid chromatography with multichannel ultraviolet detection used for studying disorders of purine metabolism Clin. Chem. 33 1987 2052 2056
5. M. Duran, L. Dorland, E.E. Meuleman, P. Allers, and R. Berger Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis J. Inherit. Metab. Dis. 20 1997 227 236
6. K. Lemr, T. Adam, P. Frycak, and D. Friedecky Mass spectrometry for analysis of purine and pyrimidine compounds Adv. Exp. Med. Biol. 486 2000 399 403
7. P. Frycak, R. Huskova, T. Adam, and K. Lemr Atmospheric pressure ionization mass spectrometry of purine and pyrimidine markers of inherited metabolic disorders J. Mass Spectrom. 37 2002 1242 1248
8. D. Friedecky, T. Adam, and P. Bartak Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism: a selective approach Electrophoresis 23 2002 565 571
9. H. Kazoka Analysis of purines and pyrimidines by mixed partition-adsorption normal-phase high-performance liquid chromatography J. Chromatogr., A 942 2002 1 10
10. C. Vidotto, D. Fousert, M. Akkermann, A. Griesmacher, and M.M. Muller Purine and pyrimidine metabolites in children's urine Clin. Chim. Acta 335 2003 27 32
11. A.P. Burlina, V. Ferrari, and P. Divry N-acetylaspartylglutamate in Canavan disease: an adverse effector? Eur. J. Pediatr. 158 1999 406 409
12. T. Kuhara Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry J. Chromatogr. B 781 2002 497 517
13. 13C-NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease J. Pharm. Biomed. Anal. 31 2003 455 463
14. Y. Inoue, and T. Kuhara Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry J. Chromatogr. B 806 2004 33 39
15. N.I. Wolf, M.A.A.P. Willemsen, and U.F. Engelke Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF Neurology 62 2004 1503 1508
16. P. Rinaldo, L. Chiandetti, F. Zacchello, S. Daolio, and P. Traldi CAD MIKES: a new method for a rapid and unequivocal structural identification of organic acids in biological fluids. A first application to a case of methylmalonic aciduria Biomed. Mass Spectrom. 11 1984 643 646
17. O.A. Mamer, L. Choiniere, D. Boismenu, and F. Lepine Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygen J. Inherit. Metab. Dis. 22 1999 821 826
18. T. Hagen, M.S. Korson, M. Sakamoto, and J.E. Evans A GC/MS/MS screening method for multiple organic acidemias from urine specimens Clin. Chim. Acta 283 1999 77 88
19. T. Shinka, Y. Inoue, M. Yoshino, H. Kakinuma, H. Takahashi, and T. Kuhara Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening J. Chromatogr. B 776 2002 65 70
20. S.P. Wang, and C.S. Liao Comparison of ion-pair chromatography and capillary zone electrophoresis for the assay of organic acids as markers of abnormal metabolism J. Chromatogr., A 1051 2004 213 219
21. G. Lazzarino, D. Di Pierro, B. Tavazzi, L. Cerroni, and B. Giardina Simultaneous separation of malondialdehyde, ascorbic acid, and adenine nucleotide derivatives from biological samples by ion-pairing high-performance liquid chromatography Anal. Biochem. 197 1991 191 196
22. G. Lazzarino, P. Raatikainen, and M. Nuutinen Myocardial release of malondialdehyde and purine compounds during coronary bypass surgery Circulation 90 1994 291 297
23. D. Di Pierro, B. Tavazzi, and C.F. Perno An ion-pairing high-performance liquid chromatographic method for the direct simultaneous determination of nucleotides, deoxynucleotides, nicotinic coenzymes, oxypurines, nucleosides, and bases in perchloric acid cell extracts Anal. Biochem. 231 1995 407 412
24. B. Tavazzi, R. Vagnozzi, and D. Di Pierro Ion-pairing high-performance liquid chromatographic method for the detection of N-acetylaspartate and N-acetylglutamate in cerebral tissue extracts Anal. Biochem. 277 2000 104 108
25. G. Lazzarino, A.M. Amorini, and G. Fazzina Single-sample preparation for simultaneous cellular redox and energy state determination Anal. Biochem. 322 2003 51 59
26. L. Cristofori, B. Tavazzi, and R. Gambin Biochemical analysis of the cerebrospinal fluid: evidence for catastrophic energy failure and oxidative damage preceding brain death in severe head injury: a case report Clin. Biochem. 38 2005 97 100
27. M. Czauderna, and J. Kowalczyk Simultaneous measurement of allantoin, uric acid, xanthine and hypoxanthine in blood by high-performance liquid chromatography J. Chromatogr. B 704 1997 89 98
28. G. Minniti, U. Caruso, R. Cerone, and E. de Toni Purines and pyrimidines determination in urine using high-performance liquid chromatography Adv. Exp. Med. Biol. 431 1998 843 848
29. T. Ito, A.B. van Kuilenburg, and A.H. Bootsma 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. 46 2000 445 452
30. M. Katayama, Y. Matsuda, and K. Shimokawa Simultaneous determination of six adenyl purines in human plasma by high-performance liquid chromatography with fluorescence derivatization J. Chromatogr. B 760 2001 159 163
31. C. Jakobs, H.J. ten Brink, and S.A. Langelaar Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease J. Inherit. Metab. Dis. 14 1991 653 660
32. S. Surendran, E.L. Ezell, and M.J. Quast Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brain Brain Res. 1016 2004 268 271
33. U. Wullner, J. Seyfried, and P. Groscurth Glutathione depletion and neuronal cell death: the role of reactive oxygen intermediates and mitochondrial function Brain Res. 826 1999 53 62
34. C. Wallin, M. Puka-Sundvall, H. Hagberg, S.G. Weber, and M. Sandberg Alterations in glutathione and amino acid concentrations after hypoxia-ischemia in the immature rat brain Dev. Brain Res. 125 2000 51 60
35. A.J. Sasco, F. Rey, C. Reynaud, J.Y. Bobin, M. Clavel, and A. Niveleau Breast cancer prognostic significance of some modified urinary nucleosides Cancer Lett. 108 1996 157 162
36. J.P. Braybrooke, S. Houlbrook, and J.E. Crawley Evaluation of the alkaline comet assay and urinary 3-methyladenine excretion for monitoring DNA damage in melanoma patients treated with dacarbazine and tamoxifen Cancer Chemother. Pharmacol. 45 2000 111 119
37. M. Boda, I. Nemeth, and D. Boda The caffeine metabolic ratio as an index of xanthine oxidase activity in clinically active and silent celiac patients J. Pediatr. Gastroenterol. Nutr. 29 1999 546 550
38. A. el-Yazigi, S. Shabib, S. al-Rawithi, A. Yusuf, E.S. Legayada, and A. al-Humidan Salivary clearance and urinary pattern of caffeine in healthy children and in pediatric patients with hepatocellular disease J. Clin. Pharmacol. 39 1999 366 372
39. I. Nemeth, and D. Boda Xanthine oxidase activity and blood glutathione redox ratio in infants and children with septic shock Intensive Care Med. 27 2001 216 221
40. F. Vrtic, W.E. Haefeli, J. Drewe, S. Krahenbuhl, and M. Wenk Interaction of ibuprofen and probenecid with drug metabolizing enzyme phenotyping procedures using caffeine as the probe drug Br. J. Clin. Pharmacol. 55 2003 191 198