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How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

Publication ,  Journal Article
Auray-Blais, C; Ntwari, A; Clarke, JTR; Warnock, DG; Oliveira, JP; Young, SP; Millington, DS; Bichet, DG; Sirrs, S; West, ML; Casey, R ...
Published in: Clin Chim Acta
December 14, 2010

BACKGROUND: Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids. A novel plasma biomarker, globotriaosylsphingosine (lyso-Gb(3)), is increased in patients with the disease. Until now, lyso-Gb(3) was not detectable in urine, possibly because of the presence of interfering compounds. METHODS: We undertook to: 1) characterize lyso-Gb(3) in urine; 2) develop a method to quantitate urinary lyso-Gb(3) by mass spectrometry; 3) evaluate urinary lyso-Gb(3) as a potential biomarker for Fabry disease; and 4) determine whether lyso-Gb(3) is an inhibitor of α-galactosidase A activity. We analyzed urinary lyso-Gb(3) from 83 Fabry patients and 77 healthy age-matched controls. RESULTS: The intraday and interday bias and precision of the method were <15%. Increases in lyso-Gb(3)/creatinine correlated with the concentrations of Gb(3) (r(2)=0.43), type of mutations (p=0.0006), gender (p<0.0001) and enzyme replacement therapy status (p=0.0012). Urine from healthy controls contained no detectable lyso-Gb(3). Lyso-Gb(3) did not inhibit GLA activity in dried blood spots. Increased urinary excretion of lyso-Gb(3) of Fabry patients correlated well with a number of indicators of disease severity. CONCLUSION: Lyso-Gb(3) is a reliable independent biomarker for clinically important characteristics of Fabry disease.

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Published In

Clin Chim Acta

DOI

EISSN

1873-3492

Publication Date

December 14, 2010

Volume

411

Issue

23-24

Start / End Page

1906 / 1914

Location

Netherlands

Related Subject Headings

  • alpha-Galactosidase
  • Young Adult
  • Urinalysis
  • Sphingolipids
  • Sex Factors
  • Reproducibility of Results
  • Reference Standards
  • Psychosine
  • Middle Aged
  • Male
 

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Auray-Blais, C., Ntwari, A., Clarke, J. T. R., Warnock, D. G., Oliveira, J. P., Young, S. P., … Gagnon, R. (2010). How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta, 411(23–24), 1906–1914. https://doi.org/10.1016/j.cca.2010.07.038
Auray-Blais, Christiane, Aimé Ntwari, Joe T. R. Clarke, David G. Warnock, João Paulo Oliveira, Sarah P. Young, David S. Millington, et al. “How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?Clin Chim Acta 411, no. 23–24 (December 14, 2010): 1906–14. https://doi.org/10.1016/j.cca.2010.07.038.
Auray-Blais C, Ntwari A, Clarke JTR, Warnock DG, Oliveira JP, Young SP, et al. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta. 2010 Dec 14;411(23–24):1906–14.
Auray-Blais, Christiane, et al. “How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?Clin Chim Acta, vol. 411, no. 23–24, Dec. 2010, pp. 1906–14. Pubmed, doi:10.1016/j.cca.2010.07.038.
Auray-Blais C, Ntwari A, Clarke JTR, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu W-L, Keutzer JM, Zhang XK, Gagnon R. How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? Clin Chim Acta. 2010 Dec 14;411(23–24):1906–1914.
Journal cover image

Published In

Clin Chim Acta

DOI

EISSN

1873-3492

Publication Date

December 14, 2010

Volume

411

Issue

23-24

Start / End Page

1906 / 1914

Location

Netherlands

Related Subject Headings

  • alpha-Galactosidase
  • Young Adult
  • Urinalysis
  • Sphingolipids
  • Sex Factors
  • Reproducibility of Results
  • Reference Standards
  • Psychosine
  • Middle Aged
  • Male