Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders

Journal of Lipid Research

Volumn 49, Issue 8, 2008, Pages 1855-1862

  Al Dirbashi, Osama Y ^a   Santa, Tomofumi ^b   Rashed, Mohamed S ^a   Al Hassnan, Zuhair ^a   Shimozawa, Nobuyuki ^c   Chedrawi, Aziza ^a   Jacob, Minnie ^a   Al Mokhadab, Manhal ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b UNIVERSITY OF TOKYO   (Japan)

^c GIFU UNIVERSITY   (Japan)

Author keywords

Acid; Derivatization; Peroxisomes; Zellweger syndrome

Indexed keywords

BEHENIC ACID; LIGNOCERIC ACID; LONG CHAIN FATTY ACID; OXADIAZOLE DERIVATIVE; PHYTANIC ACID; PRISTANIC ACID; UNCLASSIFIED DRUG; VERY LONG CHAIN FATTY ACID; BIOLOGICAL MARKER; FATTY ACID;

ARTICLE; CALIBRATION; CONTROLLED STUDY; DERIVATIZATION; DISEASE MARKER; DISORDERS OF PEROXISOMAL FUNCTIONS; ELECTROSPRAY MASS SPECTROMETRY; EXTRACTION; FATTY ACID BLOOD LEVEL; HUMAN; HYDROLYSIS; LIQUID CHROMATOGRAPHY; MASS FRAGMENTOGRAPHY; MASS SPECTROMETRY; PRIORITY JOURNAL; REFERENCE VALUE; TANDEM MASS SPECTROMETRY; BLOOD; METHODOLOGY; VALIDATION STUDY;

BIOLOGICAL MARKERS; CHROMATOGRAPHY, LIQUID; FATTY ACIDS; HUMANS; PEROXISOMAL DISORDERS; PHYTANIC ACID; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION; TANDEM MASS SPECTROMETRY;

EID: 51449110407     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.D800019-JLR200     Document Type: Article

References (29)

1. Gould, S. J., G. V. Raymond, and D. Valle. 2001. The peroxisome biogenesis disorders. In The Metabolic and Molecular Bases of Inherited Disease. C. R. Scriver, A. L. Beaudet, D. Valle, and W. S. Sly, editors. McGraw-Hill, Inc., New York. 3181-3217.
2. Poll-The, B. T., P. Aubourg, and R. J. A. Wanders. 2006. Peroxisomal disorders. In Inborn Metabolic Diseases Diagnosis and Treatment. J. Fernandes, J. M. Saudubray, G. van den Berghe, and J. H. Walter, editors. Springer, Berlin Heidelberg New York. 509-522.
3. Wanders, R. J. A., P. G. Barth, and B. T. Poll-The. 2006. Peroxisomal disorders. In Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. N. Blau, M. Duran, M. E. Blaskovics, and K. M. Gibson, editors. Springer, Berlin Heidelberg New York. 481-508.
4. Shimozawa, N. 2007. Molecular and clinical aspects of peroxisomal diseases. J. Inherit. Metab. Dis. 30: 193-197.
5. Hoffmann, G. F., W. L. Nyhan, J. Zschoche, S. G. Kahler, and E. Mayatepek. 2002. Inherited Metabolic Diseases. Lippincott Williams and Wilkins, Philadelphia. 328-333.
6. Wanders, R. J. A. 2004. Peroxisomes, lipid metabolism, and peroxisomal disorders. Mol. Genet. Metab. 83: 16-27.
7. Oglesbee, D. 2005. An overview of peroxisomal biogenesis disorders. Mol. Genet. Metab. 84: 299-301.
8. Wanders, R. J. A. 2004. Metabolic and molecular basis of peroxisomal disorders: a review. Am. J. Med. Genet. A. 126: 355-375.
9. Wanders, R. J., and H. R. Waterham. 2006. Peroxisomal disorders: the single peroxisomal enzyme deficency. Biochim. Biophys. Acta. 1763: 1707-1720.
10. Shimozawa, N., T. Tsukamoto, Y. Suzuki, T. Orii, Y. Shirayoshi, T. Mori, and Y. Fujiki. 1992. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science. 255: 1132-1134.
11. Hogenboom, S., J. J. Tuyp, M. Espeel, J. Koster, R. J. Wanders, and H. R. Waterham. 2004. Mevalonate kinase is a cytosolic enzyme in humans. J. Cell Sci. 117: 631-639.
12. Baumgartner, M. R., and J. M. Saudubray. 2002. Peroxisomal disorders. Semin. Neonatol. 7: 85-94.
13. Berger, J., and J. Gärtner. 2006. X-linked adrenoleukodystrophy: clinical, biochemical and pathogenic aspects. Biochim. Biophys. Acta. 1763: 1721-1732.
14. Vallanve, H., and D. Applegarth. 1994. An improved method for quantification of very long chain fatty acids in plasma. Clin. Biochem. 27: 183-186.
15. Vreken, P., A. E. M. van Lint, A. H. Bootsma, H. Overmars, R. J. A. Wanders, and A. H. van Gennip. 1998. Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 713: 281-287.
16. Jakobs, C., C. M. M. van den Heuvel, F. Stellaard, C. Largilliere, F. Skovby, and E. Christensen. 1993. Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening. J. Inherit. Metab. Dis. 16: 63-66.
17. Johnson, D. W. 2000. A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long chain fatty acids as dimethylaminoethyl esters in plasma and blood spots by electrospray tandem mass spectrometry. J. Inherit. Metab. Dis. 23: 475-486.
18. Valianpour, F., J. J. M. Selhorst, L. E. M. van Lint, A. H. van Gennip, R. J. A. Wanders, and S. Kemp. 2003. Analysis of very long chain UPLC-MS/ MS to determine markers of peroxisomal disorders 1861 fatty acids using electrospray ionization mass spectrometry. Mol. Genet. Metab. 79: 189-196.
19. Johnson, D. W., M. U. Trinh, and T. Oe. 2003. Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 798: 159-162.
20. Tsukamoto, Y., T. Santa, H. Saimaru, K. Imai, and T. Funatsu. 2005. Synthesis of benzofurazan derivatization reagents for carboxylic acids and its application to analysis of fatty acids in rat. Biomed. Chromatogr. 19: 802-808.
21. Santa, T., O. Y. Al-Dirbashi, T. Ichibangase, T. Fukushima, M. S. Rashed, T. Funatsu, and K. Imai. 2007. Synthesis of benzofurazan derivatization reagents for carboxylic acids in liquid chromatography/ electrospray ionization tandem mass spectrometry. Biomed. Chromatogr. 21: 1207-1213.
22. Al-Dirbashi, O. Y., T. Santa, K. Al-Qahtani, M. Al-Amoudi, and M. S. Rashed. 2007. Analysis of organic acid markers relevant to inherited metabolic diseases by UPLC-MS/MS as benzofurazan derivatives. Rapid Commun. Mass Spectrom. 21: 1984-1990.
23. Moser, H. W., and A. B. Moser. 1991. Measurement of saturated very long chain fatty acids in plasma. In Techniques in Diagnostic Human Biochemical Genetics. F. A. Hommes, editor. Wiley-Liss, New York. 177-191.
24. Moser, A. E., I. Singh, F. R. Brown, G. I. Solish, R. I. Kelly, P. J. Benke, and H. W. Moser. 1984. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long chain fatty acids and their use in prenatal diagnosis. N. Engl. J. Med. 310: 1141-1146.
25. Johnson, D. W. 2005. Contemporary clinical usage of LC/MS: analysis of biologically important carboxylic acids. Clin. Biochem. 38: 351-361.
26. Hall, N. A., G. W. Lynes, and N. M. Hjelm. 1988. Ratios for very long chain fatty acids in plasma of subjects with peroxisomal disorders as determined by HPLC and validated by gas chromatography mass spectrometry. Clin. Chem. 34: 1041-1045.
27. Cech, N. B., and C. G. Enke. 2000. Relating electrospray ionization response to non-polar character of small peptides. Anal. Chem. 73: 2713-2723.
28. Verhoeven, N. M., W. Kulik, C. M. M. van den Heuvel, and C. Jakobs. 1995. Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography-mass spectrometry. J. Inherit. Metab. Dis. 18: 45-60.
29. ten Brink, H. J., F. Stellaard, C. M. M. van den Heuvel, R. M. Kok, D. S. M. Schor, R. J. A. Wanders, and C. Jakobs. 1992. Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentometry. J. Lipid Res. 33: 41-47.