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Clin Chim Acta. 2010 Dec 14;411(23-24):1906-14. doi: 10.1016/j.cca.2010.07.038. Epub 2010 Aug 14.

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

Author information

1
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, Sherbrooke, Quebec, Canada. Christiane.auray-blais@usherbrooke.ca

Abstract

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.

PMID:
20716442
DOI:
10.1016/j.cca.2010.07.038
[Indexed for MEDLINE]

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