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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).
Study Identifies Potential New Avenue for Treating Pompe Disease. 1  July 25, 2016 â Researchers have identified a potential new avenue for treating Pompe disease, a rare condition caused by the build-up of glycogen, a storage form of sugar, in cardiac and skeletal muscle, the liver ...