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http://dx.doi.org/10.5478/MSL.2015.6.4.116

A Fast Determination of Globotriaosylsphingosine in Plasma for Screening Fabry Disease Using UPLC-ESI-MS/MS  

Yoon, Hye-Ran (Biomedical & Pharmaceutical Analysis Lab, College of Pharmacy, Duksung Women's University)
Publication Information
Mass Spectrometry Letters / v.6, no.4, 2015 , pp. 116-119 More about this Journal
Abstract
Globotriaosylsphingosine (lyso-Gb3) is considered as one of the biological marker for Fabry disease. To date, a reliable biomarker that reflects disease severity and progression has not been discovered to guide the management of Fabry disease. A new method included a simple protein precipitation with acetonitrile in 100 μL of plasma following analyte separation on an Phenomenex Kintex- C18 column using a gradient elution (0.1% formic acid in 5-90% acetonitrile). Total run time was within 12 min including sample preparation and MS/MS analysis. The limit of detection and limit of quantitation were 1 ng/mL and 2 ng/mL, respectively. The calibration curve was linear over the concentration range of 2.0-200.0 ng/mL (r2 = 0.9999). Inter-day accuracy and precision at 7 level were 93.4-100.7% with RSD of 0.55-5.97%. Absolute recovery was 97.6-98.6%. The method was applied to human and mice plasma, proved the suitability for quantification of lyso-Gb3 for screening, diagnosis and therapeutic monitoring of Fabry disease patients.
Keywords
Fabry disease; Globotriaosylsphingosine; Ultraperformance liquid chromatography tandem-mass spectrometry; Inherited metabolic disease;
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