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Updated: Aug 21, 2026

Mass Spectrometric Analysis of Glycosphingolipid Antigens
Published on: April 16, 2013
Glycosphingolipidoses: beyond the enzymatic defect
Annick Raas-Rothschild1, Irene Pankova-Kholmyansky, Yaacov Kacher
1Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel.
Abstract:
The glycosphingolipid lysosomal storage diseases are a group of monogenic human disorders caused by the impaired catalytic activity of enzymes responsible for glycosphingolipid catabolism. Clinical presentation of the diseases is heterogeneous, with little obvious correlation between the kind of accumulating glycosphingolipid and disease progression or pathogenesis. In this review, we discuss clinical symptoms of this group of diseases, and attempt to link disease progression and pathology with the biochemical and cellular pathways that may be potentially altered in the diseases.
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