期刊
MOLECULAR GENETICS AND METABOLISM REPORTS
卷 8, 期 -, 页码 77-79出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2016.07.004
关键词
Glucosylceramide; Globotriaosylceramide; Liquid chromatography-tandem mass spectrometry (LC/MS/MS); Delipidized plasma; Sensitivity; Standard addition method
Glucosylceramide (GL-1) level in human has been considered as a surrogate biomarker for enzyme replacement and substrate reduction therapies (ERT and SRT) for Gaucher and Fabry patients. Due to the high endogenous level of GL-1 in human plasma, it is difficult to achieve the analytical sensitivity of plasma GL-1 below the normal endogenous level (1.7 mu g/mL to 6.6 mu g/mL) when using the standard addition method and regular plasma matrix for standard curve. A high sensitivity plasma GL-1 assay with LLOQ at 0.1 mu g/mL was developed and validated using delipidized plasma so that patient plasma concentrations that are below normal reference range can be measured accurately. The normal reference range was established from 120 healthy donors using this developed new method. Twenty-three Fabry patient plasma samples including baseline and post-investigation drug treatment samples were measured. All post-treatment samples showed GL-1 concentration below 2.0 mu g/mL, indicating the utility of the reported high sensitivity assay using delipidized plasma for monitoring the plasma GL-1 biomarker level in patients. (C) 2016 Sanofi. Published by Elsevier Inc.
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