Lysosomal Storage Disease (LSD)

The first paper we suggest reading is Lysosomal storage diseases: from pathophysiology to therapy. This paper is free and available to the public and your doctor. After reading through the research paper, bring up your questions and comments with your medical team.

The paper above specifically covers the latest findings in lysosomal biology. Pompe disease is mentioned numerous times throughout the paper, and the latest therapies being attempted in research are discussed. Figure 1 (shown to the right) is a graphic that your medical team could use for devising an improved treatment plan for your specific presentation of Pompe Disease.

It is important to note that Pompe disease falls under two categories. A Lysosomal Storage Disease (LSD) and a Glycogen Storage Disease (GSD).

For an overview of glycogen metabolism, you can check out this link from the 2018 Oregon State University website “Biochemistry: Free For All,” starting on page 191.