Pompe’s disease is a multisystem and progressive disorder. The disorder was diagnosed first in a seven-month-old infant who was found to be died as a result of bulky glycogen accumulation in many tissues; more so in the cardiac and skeletal muscles. It was formulated in 1932 by a pathologist Joannes Pompe’s for the very first time then, and so derived the name after him. Later the disease was linked with a deficiency of the lysosomal enzyme, which is responsible for the breakdown of glycogen to glucose.
The result is intralysosomal accumulation of glycogen, primarily in muscle cells, that leads to a progressive loss of muscle function.
Pompe’s disease is caused by the underlying enzyme deficiency, leading to the glycogen accumulation and secondary muscular degeneration, which is often progressive. However, the disease encompasses lot of clinical phenotypes.