Rapid, sensitive analysis of sphingolipid variant profiles with simplified sample extraction

Plasma lysosphingolipids (LysoSLs) have recently emerged as potential biomarkers in a range of sphingolipidoses, including Gaucher disease, Krabbe disease, Fabry disease, Niemann-Pick types A/B disease (NPA/B), Sandhoff disease, Tay-Sachs disease and GM1 gangliosidosis. LysoSL profiles are also of potential research importance as a biomarker of Niemann-Pick type C disease (NPC), where secondary storage of sphingolipids is believed to occur. Direct analysis of these groups can be complex due to extensive structural homogeneity between individual compounds. Thus, current methods of analysis of these lipids primarily involve either enzyme activity procedures or derivatization of compounds prior to analysis.