Current strategies in the management of lysosomal storage diseases.

摘要

Lysosomal storage diseases (LSDs) comprise a diverse group of over 40 clinically distinct inherited disorders. LSDs are progressive and may present at any age affecting any number of tissues and organ systems. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective. However, limitations in these therapies still exist. To date, there is no cure for any of the LSDs. Early diagnosis and treatment is essential for optimal treatment; this lends support to implementing mass newborn screening for LSDs.