Towards a molecular therapy for glycogen storage disease type II (Pompe disease).


Journal Article (Review)

Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a fatal genetic muscle disorder caused by a deficiency of acid alpha-glucosidase, a glycogen-degrading lysosomal enzyme. Currently, there is no treatment for this fatal disorder. However, several lines of research suggest the possibility of future treatment. Enzyme replacement strategies hold the greatest hope for patients currently affected by GSD-II, but future strategies could include in vivo or ex vivo gene therapy approaches and/or mesenchymal stem cell or bone-marrow transplantation approaches. Each of the approaches might eventually be combined to further improve the overall clinical efficacy of any one treatment regimen. The lessons learned from GSD-II research will also benefit a great number of individuals affected by other genetic disorders.

Full Text

Duke Authors

Cited Authors

  • Chen, YT; Amalfitano, A

Published Date

  • June 2000

Published In

Volume / Issue

  • 6 / 6

Start / End Page

  • 245 - 251

PubMed ID

  • 10840383

Pubmed Central ID

  • 10840383

International Standard Serial Number (ISSN)

  • 1357-4310

Digital Object Identifier (DOI)

  • 10.1016/s1357-4310(00)01694-4


  • eng

Conference Location

  • England