Abstract
Glycosphingolipid (GSL) storage diseases (GSDs) are a group of monogenic disorders among a large family of lysosomal storage diseases, which include more than 40 different human disorders. GSDs are caused by the impaired catalytic activity of the lysosomal hydrolases responsible for GSL degradation, which leads to accumulation of undegraded GSLs in lysosomes. The clinical presentation of GSDs varies between disorders and within each disorder. The reason for this heterogeneity is not known, but almost certainly depends on the level and nature of the accumulating GSL and the down-stream biochemical and cellular pathways activated upon GSL accumulation. We now review what little is known about the correlation of the clinical progression and pathology with the underlying biochemistry of the GSDs.
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