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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).
This disease can be caused by an autoimmune disorder, infection (for example, tuberculosis), or other rare diseases that cause infiltration and thus destruction of the adrenal glands (for example, sarcoidosis or amyloidosis). The most common cause of Addison's disease in developed countries is autoimmune disorders.