Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined 
as disorders caused by a genetic defect in catabolism of sphingosine-containing 
lipids. Catabolism of these lipids involves enzymes and activator proteins. 
After the discovery of lysosomes by de Duve and the demonstration of the first 
defective lysosomal enzyme by Hers in 1963, the first enzyme deficiency for 
sphingolipidoses was characterized in 1965 and all the defective enzymes were 
demonstrated in the last three decades. In 1984, the first activator protein was 
found and it expanded the concept of sphingolipidoses. In the following years, 
many researches have been undertaken to understand the molecular basis of these 
diseases, the mechanism of pathogenesis, the mechanism of lysosomal digestion of 
glycosphingolipids (GSLs) and the functional domains of lysosomal enzymes. New 
hypotheses and theories have been put forward for the mechanism of lysosomal 
digestion and pathogenesis. However, although much has been done, the 
pathogenesis of sphingolipidoses has not been fully elucidated. Mouse models of 
these diseases have facilitated the elucidation of pathogenesis and the 
development of therapeutic strategies for these diseases, which are not 
treatable at present except for Fabry and type 1 Gaucher disease. The purpose of 
this review is to collect information on the recent researches related to 
sphingolipidoses. The review includes the hydrolysis of GSLs in lysosome, 
mechanism of hydrolysis, pathogenesis and genetics of sphingolipidoses, a brief 
mouse model and therapeutic strategies of these diseases.