Separation and Analysis of Lactosylceramide, Galabiosylceramide, and Globotriaosylceramide by LC-MS/MS in Urine of Fabry Disease Patients

Analytical Chemistry
Michel BoutinChristiane Auray-Blais

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL A) deficiency. This enzyme contributes to the cellular recycling of glycosphingolipids such as galabiosylceramide (Ga2), globotriaosylceramide (Gb3), and globotriaosylsphingosine (lyso-Gb3) by hydrolyzing the terminal α-galactosyl moiety. Urine and plasma α-GAL A substrates are currently analyzed as biomarkers for the detection, monitoring, and follow-up of Fabry disease patients. The sensitivity of the analysis of Ga2 is decreased by the co-analysis of its structural isomer, lactosylceramide (LacCer), which is not an α-GAL A substrate. A normal-phase ultraperformance liquid chromatography coupled to tandem mass spectrometry (UPLC-MS/MS) methodology, allowing the baseline separation of 12 Ga2 isoforms/analogues from their lactosylceramide counterparts, was developed and validated in urine. The method was multiplexed with the analysis of 12 Gb3 isoforms/analogues having the same fatty acid moieties as those of Ga2 for comparison, and with creatinine for sample normalization. Urine samples were studied from 34 untreated and 33 Fabry males treated by enzyme replacement therapy (ERT) and 54 untreated and 19 ERT-treated Fabry females, along wi...Continue Reading

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Citations

Aug 11, 2018·Journal of the American Society of Nephrology : JASN·Malte Lenders, Eva Brand
Mar 22, 2020·Clinical Pharmacology and Therapeutics·Malte LendersEva Brand
Aug 29, 2020·International Journal of Molecular Sciences·Michel BoutinChristiane Auray-Blais
Sep 24, 2020·Genes·Tina LevstekKatarina Trebusak Podkrajsek
Sep 2, 2020·Journal of Lipid Research·Siamak Jabbarzadeh-TabriziJin-Song Shen
Dec 29, 2020·Biochemical and Biophysical Research Communications·Hisako AkiyamaYoshio Hirabayashi
Feb 13, 2021·International Journal of Molecular Sciences·Daniela Sorriento, Guido Iaccarino
May 1, 2021·Journal of Clinical Medicine·Clara Carnicer-CáceresGuillem Pintos-Morell

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