Pompe disease has two forms so it is important to check which one you are learning or reading about. The two forms are; infantile-onset Pompe disease or late-onset Pompe disease. Both forms are progressive, although the rate varies between individuals.
Lysosomes are found in almost all cells in the body. An essential enzyme for the metabolism of glycogen called acid alpha-glucosidase (GAA) is deficient or dysfunctional within the lysosome. Without the GAA the lysosome cannot break down glycogen. Glycogen builds up, the lysosome expands, damaging muscle and liver cells.
Pompe disease is the only glycogen storage disease that is also a lysosomal storage disease.