Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool

Abstract

Background: Glucosylsphingosine (GluSph) has emerged as a biomarker for the inherited metabolic disorder, Gaucher disease (GD). We developed a simple laboratory test to measure plasma GluSph and show that elevated GluSph is diagnostic for GD as well as informing on disease burden for monitoring patients on treatment. Methods: GluSph was measured from a single-phase total lipid extraction of 0.01. mL of plasma by liquid chromatography-electrospray ionisation-tandem mass spectrometry and concentrations extrapolated from a seven point standard curve (0.04 to 20. pmoL). A total of 1464 samples were tested and longitudinal assessment of an additional 20 GD patients. Results: All patients with GD ..