what pompes?
Pompe disease is a neuromuscular kind of disorder that is multisystemic and progressively fatal in nature. It was coined by a Dutch Pathologist named Joannes C. Pompe. It is known as a genetic condition occurring when there is minimal glycogen, which is a type of sugar, stores in the bodyâs cells.
Pompe Disease. Pompe disease is a hereditary disorder that disables the heart and muscles. It is rare, most often times fatal, and found 1 in every 40,000 births. The disorder is caused by mutations in the gene that makes the enzyme alpha-glucosidase (GAA), which reduces or eliminates the enzyme alpha-glucosidase.