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Pompe (POM-pay) disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder that results in profound muscle weakness. The disease is caused by mutations in the gene that instructs the body to make an enzyme called acid alpha-glucosidase (GAA).
The infantile form of Pompe disease is characterized by a total lack of alpha glucosidase activity and by a rapid buildup of glycogen in skeletal muscle and in the heart. Late Onset Forms. The time of presentation of late onset Pompe disease varies from the first to the seventh decade.