Lysosomal storage diseases

This review attempts two things: first, to summarize the widely accepted, salient biochemical and diagnostic aspects of each of the lysosomal storage diseases and, second, to point out areas of research the authors believe are likely to bear fruit in the next few years. We do not attempt to present a precis of many excellent reviews and reference books that are available. In view of space constraints and the fact that nearly two dozen lysosomal storage diseases occur in man, we have been forced to omit references to some significant publications. In addition, we have chosen to devote less attention to some diseases so that we might emphasize others for which new and exciting findings have recently appeared. Nevertheless, although some topics may be slighted, we hope to leave the reader with a full and accurate view of the general principles that apply to the spectrum of lysosomal storage diseases as well as specific examples of the kinds of questions that are being considered by leading investigators in the field today. We devote a separate section to each of the major categories of lysosomal storage disease: the sphingolipidoses, the glycoproteinoses, the mucolipidoses, and the mucopolysaccharidoses. We devote a fifth section to storage diseases involving glycogen, cystine, and long-chain fatty acid esters.