Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson‐Fabry disease
- 3 July 2002
- journal article
- research article
- Published by Wiley in Rapid Communications in Mass Spectrometry
- Vol. 16 (16) , 1507-1514
- https://doi.org/10.1002/rcm.728
Abstract
A method for measuring globotriaosylceramide (Gb3, or GL3) levels in plasma and urine of humans affected by Anderson‐Fabry disease has been developed. The analyses are performed using flow injection analysis‐electrospray ionization‐tandem mass spectrometry (FIA‐ESI‐MS/MS). The method is rapid, sensitive and hence suitable for high‐throughput analyses, requiring only a simple 50‐fold dilution for the preparation of plasma and urine samples. The detection of the analytes of interest was achieved using a triple quadrupole instrument operating in the multiple reaction monitoring mode. The linearity of the calibration standard responses, the intra‐ and inter‐assay precision, the accuracy and the detection limit of the method were evaluated. The proposed method allows a rapid and accurate assessment of globotriaosylceramide in biological samples. Data obtained from healthy volunteers and Anderson‐Fabry affected subjects suggest a potential role for this technique in monitoring the effectiveness of Anderson‐Fabry disease therapy. The results obtained in two actual cases treated with enzyme replacement therapy are reported and discussed. Copyright © 2002 John Wiley & Sons, Ltd.Keywords
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