The Biochemistry of Sphingolipid Storage Diseases

Sphingolipids are components of animal membranes that are made up of a hydrophobic ceramide and a hydrophilic moiety (phosphorylcholine, oligosaccharides or their derivatives). Several enzymes are required for the step‐by‐step degradation of the sphingolipids. If one of these enzymes is deficient or totally lacking, then its substrates accumulate in the body and cause severe damage, especially when storage occurs in the nervous system. The enzyme defects are inherited in a recessive manner.