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Rapid quantitation of globotriaosylceramide in human plasma and urine: a potential application for monitoring enzyme replacement therapy in Anderson‐Fabry disease
Author(s) -
Boscaro Francesca,
Pieraccini Giuseppe,
Marca Giancarlo la,
Bartolucci Gianluca,
Luceri Cristina,
Luceri Francesca,
Moneti Gloriano
Publication year - 2002
Publication title -
rapid communications in mass spectrometry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.528
H-Index - 136
eISSN - 1097-0231
pISSN - 0951-4198
DOI - 10.1002/rcm.728
Subject(s) - globotriaosylceramide , chemistry , chromatography , triple quadrupole mass spectrometer , selected reaction monitoring , detection limit , enzyme replacement therapy , analyte , electrospray ionization , urine , fabry disease , tandem mass spectrometry , mass spectrometry , disease , biochemistry , medicine
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.