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Aim:  Fabry disease is caused by α-galactosidase A deficiency leading to accumulation of globotriaosylceramide (Gb 3 ) in tissues. Clinical manifestations do not appear to correlate with total Gb 3  levels. Studies examining tissue distribution of specific acyl chain species of Gb 3  and upstream glycosphingolipids are lacking.    Material & methods/Results:  Thorough characterization of the Fabry mouse sphingolipid profile by LC-MS revealed unique Gb 3  acyl chain storage profiles. Storage extended beyond Gb 3 ; all Fabry tissues also accumulated monohexosylceramides. Depletion of ABCB1 had a complex effect on glycosphingolipid storage.    Conclusion:  These data provide insights into how specific sphingolipid species correlate with one another and how these correlations change in the α-galactosidase A-deficient state, potentially leading to the identification of more specific biomarkers of Fabry disease.

Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion