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Lysosomal Storage Diseases To date

Björn HOFFMANN, Ertan MAYATEPEK
2.254 598

Abstract


New therapeutic options and progress of approved therapies have made Lysosomal Storage Diseases (LSDs) one of the most exciting group of diseases. This review aims to summarize current achievements in these particular disorders and to give an outlook towards possible future treatment options. Enzyme replacement therapy is the gold standard for Gaucher disease, Fabry disease, Mucopolysaccharidosis type I, II, and VI, and for Pompe disease. Besides this, substrate reduction has been approved for Gaucher disease and Niemann-Pick disease type C. However, clinical outcome in particular for neurologic affection in these disorders has been disappointing. In selected patients, bone marrow or stem cell transplantation may be beneficial. Whether or not, treatment with pharmaceutical chaperones may be able to improve in particular the neurologic outcome, remains open. Animal studies on gene therapy were promising, however, clinical application will need several years.

Keywords


lysosome, Fabry disease, Gaucher disease, mucopolysaccharidosis, enzyme replacement therapy, substrate reduction therapy, chaperone

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