Pompe Diasese-A Review

Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally. Pompe disease, also known as glycogen storage disease type II. The disease is caused by mutations in the gene that instructs the body to make an enzyme called acid alpha-glycosidase (GAA). Patients with Pompe disease have deficient lysosomal enzyme acid alpha-glycosidase (GAA) activity, which catalyses the breakdown of glycogen to glucose in the lyososome.1 Clinically it is classified into 3 types namely Infantileonset Pompe disease, Non-classic infantile-onset Pompe disease and Late or adult onset Pompe disease. Diagnostic test is the measurement of acid alpha-glucosidase (GAA) enzyme activity. Pompe disease management can be done based on its manifestations and complications.