Clinica Chimica Acta 2012-12-24

LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

Michel Boutin, René Gagnon, Pamela Lavoie, Christiane Auray-Blais

Index: Clin. Chim. Acta 414 , 273-80, (2012)

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Abstract

Background Fabry disease is a complex, multisystemic and clinically heterogeneous disease, with elevated excretion of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) accumulating in biological fluids caused by deficiency of the enzyme, lysosomal α-galactosidase A. Our aims were to propose a tandem mass spectrometry fragmentation mechanism for lyso-Gb3, to develop and validate a simple, and robust methodology for the measurement of plasma lyso-Gb3 using LC–MS/MS in large Fabry cohorts and in controls. Response to treatment was also evaluated.