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 …