Publisher Summary The sphingolipidoses are defined as disorders caused by genetic defect
in catabolism of sphingosine-containing lipids. Recently, the concept of the sphingolipidoses
has been expanded to include a group of genetic disorders caused by defective or absent
activator proteins that are normally required for in vivo hydrolysis of the hydrophobic
substrates by the hydrolases. This chapter focuses only on those disorders that are because
of genetic deficiencies of sphingolipid hydrolases. The only exception is the recently defined …