Lysosomal Storage Diseases and Therapies

Lysosomal storage diseases have traditionally been classified according to the type of material that accumulates in lysosomes in abnormal levels. In this chapter examples of progress in understanding lysosome biology and in development of treatments for lysosomal disorders are presented. Treatment developments include FDA-approved clinical treatments and also preclinical and proposed treatments based on studies in model organisms and/or cell cultures. Mannose-6 phosphate signals and corresponding receptors in the Golgi complex ensure transport to the endosomal/lysosomal system. This chapter includes discussion on specific lysosomal storage diseases including mucopolysaccharidoses, mucolipidosis, and the sphingolipidoses Gaucher disease and Niemann-Pick disease, and on Pompe disease, the glycogen storage disease. Treatment options discussed and tabulated include enzyme replacement and pharmacological chaperone treatments. Information is presented on the neuronal ceroid lipofuscinoses. Treatment options under consideration for specific forms of these disorders include use of gene therapy and therapies to upregulate gene expression.