Lysosomal storage diseases (LSDs) are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. LSDs have been models of molecular and cellular therapies for inherited metabolic diseases. Enzyme replacement therapy (ERT), bone marrow transplantation and substrate reduction therapy (SRT) have been shown to be effective for many of the LSDs. Early diagnosis and treatment have best chance for a positive outcome. We reviewed the case reports, diagnosis and treatment of LSDs in China.

Key words: lysosomal storage diseases; diagnosis; treatment; China