Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules. 2020 Sep 18;10(9):1339. doi: 10.3390/biom10091339.


Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic.

Keywords: Pompe disease; autophagy; enzyme replacement therapy; gene therapy; lysosomal targeting; lysosome; muscle; satellite cells.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autophagy / genetics
  • Enzyme Replacement Therapy / methods*
  • Genetic Therapy / methods*
  • Glycogen / metabolism
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / genetics
  • Glycogen Storage Disease Type II / therapy*
  • Humans
  • Lysosomal Storage Diseases / enzymology
  • Lysosomal Storage Diseases / genetics
  • Lysosomal Storage Diseases / therapy*
  • Lysosomes / metabolism
  • Muscle, Skeletal / metabolism
  • alpha-Glucosidases / deficiency
  • alpha-Glucosidases / genetics
  • alpha-Glucosidases / therapeutic use*


  • Glycogen
  • alpha-Glucosidases