Adeno-Associated Viral-Mediated Gene Therapy of Lysosomal Storage Disorders

  • Mario A. Cabrera-Salazar
  • Seng H. Cheng

Lysosomal storage disorders (LSD) are a group of inherited diseases that result as a consequence of the loss of one or more of the several lysosomal enzymes that are responsible for the catabolism of a variety of macromolecules. The LSD as a group, present with an incidence of approximately 1 in 7500 live births making it one of the more prevalent groups of genetic diseases. The description of the pathophysiology of LSD, as well as their biochemical basis has facilitated the development of several therapeutic approaches for the treatment of this group of disorders. These include the use of enzyme replacement (see Chapter 3, this book), substrate inhibition (see Chapter 11, this book), and cell and gene-based therapies (see Chapter 14, this book). Enzyme and of these diseases. However, for a large number of the LSD, especially those affecting small molecule therapies have been successfully developed for a small number the central nervous system, no therapies are available as yet. Moreover, improvements to the current treatments are desirable and are under active consideration by a number of investigators. This review focuses specifically on the potential of gene therapy and in particular the use of recombinant adeno-associated viral (AAV) vectors as an alternate approach to treat the visceral and CNS manifestations shown associated with these enzymatic deficiencies.


Lysosomal Enzyme Fabry Disease Pompe Disease Lysosomal Storage Disorder AAV2 Vector 
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Copyright information

© Springer Science+Business Media, LLC 2007

Authors and Affiliations

  • Mario A. Cabrera-Salazar
    • 1
  • Seng H. Cheng
    • 1
  1. 1.Genetic Diseases ScienceGenzyme CorporationFraminghamUSA

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