[Lysosomal storage disease].

Lysosomes are the principal sites of intracellular digestion. In Lysosomes approximately 40 hydrolytic enzymes are contained. Lysosomal storage diseases are mainly caused by genetic defects that affect one or more of the lysosomal hydrolases, and result in accumulation of their undigested substrates in lysosomes, with profound pathological consequences. In this paper clinical features, diagnostic methods, and trend of the present research for lysosomal storage diseases are reviewed.