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  • P-ISSN 2233-4203
  • E-ISSN 2093-8950

A Fast Determination of Globotriaosylsphingosine in Plasma for Screening Fabry Disease Using UPLC-ESI-MS/MS

Mass Spectrometry Letters / Mass Spectrometry Letters, (P)2233-4203; (E)2093-8950
2015, v.6 no.4, pp.116-119
https://doi.org/10.5478/MSL.2015.6.4.116
Yoon Hye-Ran (Duksung Women’s University)
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Abstract

Globotriaosylsphingosine (lyso-Gb3) is considered as one of the biological marker for Fabry disease. To date, a reli-able biomarker that reflects disease severity and progression has not been discovered to guide the management of Fabry disease. A new method included a simple protein precipitation with acetonitrile in 100 µL of plasma following analyte separation on an Phenomenex Kintex- C18 column using a gradient elution (0.1% formic acid in 5-90% acetonitrile). Total run time was within 12 min including sample preparation and MS/MS analysis. The limit of detection and limit of quantitation were 1 ng/mL and 2 ng/mL, respectively. The calibration curve was linear over the concentration range of 2.0-200.0 ng/mL (r 2 = 0.9999). Inter-day accuracy and precision at 7 level were 93.4-100.7% with RSD of 0.55-5.97%. Absolute recovery was 97.6-98.6%. The method was applied to human and mice plasma, proved the suitability for quantification of lyso-Gb3 for screening, diagnosis and thera-peutic monitoring of Fabry disease patients.

keywords
Fabry disease, Globotriaosylsphingosine, Ultraperformance liquid chromatography tandem-mass spectrometry, Inherited metabolic disease.


Reference

1

Desnick, R. J.. (2001). The metabolic and molecular bases of inherited disease:McGraw Hill.

2

Wilcox, W. R,. (2008). . Mol. Genet. Metab, 93, 112-.

3

Whitfield, D. P.. (2005). . J. Inherit. Metab. Dis, 28, 21-.

4

Kitagawa, T.. (2005). . Mol. Genet. Metab, 85, 196-.

5

Rozenfeld, P. A.. (2009). . Clin. Chim. Acta, 403, 194-.

6

Rombach, S. M.. (2010). . Biochim. Biophys. Acta, 1802, 741-.

7

Scheidt, W. V.. (1991). . N. Engl. J. Med, 324, 395-.

8

Kusano, E.. (2014). . Clin. Exp. Nephro, 18, 273-.

9

Gold, H.. (2013). . Clin. Chem, 59, 547-.

10

Togawa, T.. (2010). . Mol. Genet. Metab, 100, 257-.

11

Aerts, J. M.. (2008). . Proc. Natl. Acad. Sci. USA, 105, 2812-.

12

Clarke, J. T.. (2007). . Ann. Intern. Med, 146, 425-.

13

Lavoie, P.. (2013). . Anal. Chem, 85, 1743-.

14

Young-Gqamana, B.. (2013). . PLoS One, , -. http://dx.doi.org/10.1371/journal.pone.0057631Epub.

15

Auray-Blais, C.. (2010). . Clin. Chim. Acta, 411, 1906-.

16

Boutin, M.. (2014). . Anal. Chem, 86, 3476-.

17

Dupont, F. O.. (2013). . Curr. Med.Chem, 20, 280-.

18

Auray-Blais, C.. (2015). . Clin. Chem. Acta, 438, 195-.

19

Britt Johnson. (2013). Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots. Annals of Laboratory Medicine, 33(4), 274-278.

20

(2001). Food and drug administration. http://www.fda.gov/downloads/Drugs/Guidances/ucm070107.pdf.

21

Causon, R.. (1997). . J. Chromatogr. B, 689, 175-.

22

Kruger, R.. (2012). . J. Chromatogr. B, 833, 128-.

23

Young, E.. (2005). . Acta. Paediatr, 94, 51-.

24

Fan, J. Q.. (2003). . Methods Enzymol, 363, 412-.

25

Fan, J. Q.. (1999). . Nat. Med, 5, 112-.

26

Valenzano, K. J.. (2011). . Assay Drug Dev. Technol, 9, 213-.

27

Togawa, T.. (2010). . Biochim. Biophys. Acta, 399, 716-.

Submission Date
2015-11-23
Revised Date
2015-11-25
Accepted Date
2015-11-25
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