LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

Clinica Chimica Acta

Volumn 414, Issue , 2012, Pages 273-280

  Boutin, Michel ^a   Gagnon, René ^a   Lavoie, Pamela ^a   Auray Blais, Christiane ^a  

^a UNIVERSITY OF SHERBROOKE   (Canada)

Author keywords

Fabry disease; Globotriaosylsphingosine; LC MS MS; Lyso Gb3; Plasma; Tandem mass spectrometry

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; GLOBOTRIAOSYLSPHINGOSINE; SPHINGOSINE DERIVATIVE; UNCLASSIFIED DRUG; GLOBOTRIAOSYL LYSOSPHINGOLIPID; GLYCOLIPID; SPHINGOLIPID;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD LEVEL; BLOOD SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ELECTROSPRAY; FABRY DISEASE; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LIMIT OF DETECTION; LIMIT OF QUANTITATION; LIQUID CHROMATOGRAPHY-MASS SPECTROMETRY; MAJOR CLINICAL STUDY; MALE; MEASUREMENT ACCURACY; MEASUREMENT PRECISION; MULTIPLE REACTION MONITORING; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; ROOM TEMPERATURE; SOLID PHASE EXTRACTION; ULTRA PERFORMANCE LIQUID CHROMATOGRAPHY; VALIDATION PROCESS; BLOOD; CHEMICAL STRUCTURE; CHEMISTRY; CHILD; LIQUID CHROMATOGRAPHY; MIDDLE AGED; TANDEM MASS SPECTROMETRY;

ADOLESCENT; ADULT; AGED; CHILD; CHROMATOGRAPHY, LIQUID; FABRY DISEASE; FEMALE; GLYCOLIPIDS; HUMANS; MALE; MIDDLE AGED; MOLECULAR STRUCTURE; SPHINGOLIPIDS; TANDEM MASS SPECTROMETRY; YOUNG ADULT;

EID: 84868216193     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2012.09.026     Document Type: Article

References (28)

1. Clarke, J.T.R., Narrative review: Fabry disease. Ann Intern Med 146 (2007), 425–433.
2. Desnick, R.J., Brady, R., Barranger, J., et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138 (2003), 338–346.
3. Garman, S.C., Garboczi, D.N., The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 337 (2004), 319–335.
4. Togawa, T., Kodama, T., Suzuki, T., et al. Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 100:3 (2010), 257–261.
5. Smid, B.E., Rombach, S.M., Aerts, J.M.F.G., et al. Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis, 6, 2011, 69.
6. Eng, C.M., Guffon, N., Wilcox, W.R., et al. Safety and efficacy of recombinant human alpha-galactosidase A — replacement therapy in Fabry's disease. N Engl J Med 345 (2001), 9–16.
7. Mills, K., Johnson, A., Winchester, B., Synthesis of novel internal standards for the quantitative determination of plasma ceramide trihexoside in Fabry disease by tandem mass spectrometry. FEBS Lett 515 (2002), 171–176.
8. Boscaro, F., Pieraccini, G., la Marca, G., et al. Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson–Fabry disease. Rapid Commun Mass Spectrom 16 (2002), 1507–1514.
9. Whitfield, P.D., Calvin, J., Hogg, S., et al. Monitoring enzyme replacement therapy in Fabry disease—role of urine globotriaosylceramide. J Inherit Metab Dis 28 (2005), 21–33.
10. Kitagawa, T., Ishige, N., Suzuki, K., et al. Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry. Mol Genet Metab 85 (2005), 196–202.
11. Fauler, G., Rechberger, G.N., Devrnja, D., et al. Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom 19 (2005), 1499–1506.
12. Fuller, M., Sharp, P.C., Rozaklis, T., et al. Urinary lipid profiling for the identification of Fabry hemizygotes and heterozygotes. Clin Chem 51 (2005), 688–694.
13. Mills, K., Morris, P., Lee, P., et al. Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease. J Inherit Metab Dis 28 (2005), 35–48.
14. Roddy, T.P., Nelson, B.C., Sung, C.C., et al. Liquid chromatography–tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem 51 (2005), 237–240.
15. Auray-Blais, C., Cyr, D., Mills, K., Giguère, R., Drouin, R., Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease. J Inherit Metab Dis, 30, 2007, 106.
16. Auray-Blais, C., Cyr, D., Ntwari, A., et al. Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 93 (2008), 331–340.
17. 3/creatinine biomarkers for Fabry disease: issues to consider. Mol Genet Metab, 97, 2009, 237.
18. Auray-Blais, C., Millington, D.S., Young, S.P., Clarke, J.T.R., Schiffmann, R., Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. J Inherit Metab Dis 32 (2009), 303–308.
19. Aerts, J.M., Groener, J.E., Kuiper, S., et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci 105 (2008), 2812–2817.
20. Rombach, S.M., Dekker, N., Bouwman, M.G., et al. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 1802:9 (2010), 741–748.
21. Togawa, T., Kawashima, I., Kodama, T., et al. Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease. Biochem Biophys Res Commun 3,399:4 (2010), 716–720.
22. 3 function as a biomarker in Fabry disease?. Clin Chim Acta 411 (2010), 1906–1914.
23. van Breemen, M.J., Rombach, S.M., Dekker, N., et al. Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 1812:1 (2011), 70–76.
24. 3 in human plasma by tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 883–884 (2012), 128–135.
25. Winchester, B., Young, E., Laboratory diagnosis of Fabry disease. Elstein, D., Altarescu, G., Beck, M., (eds.) Fabry Disease, 2010, Springer, New York, 111–132.
26. Dekker, N., van Dussen, L., Hollak, C.E.M., et al. Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. Blood 118 (2011), 118–127.
27. Sullards, M.C., Liu, Y., Chen, Y., Merrill, A.H. Jr., Analysis of mammalian sphingolipids by liquid chromatography tandem mass spectrometry (LC–MS/MS) and tissue imaging mass spectrometry (TIMS). Biochim Biophys Acta 1811 (2011), 838–853.
28. 3) and (lyso)-sulfatide in body fluids and tissues from patients with Fabry disease and metachomatic leukodystrophy (MLD). Master Chemistry Thesis, Analytical Sciences, University of Amsterdam, March 2011, http://www.science.uva.nl/onderwijs/thesis/centraal/files/f783234087.pdf.