A rare genetic disease due to a mutation in the gene for the enzyme α-1,- glucosidase; characterized by excess glycogen stores in the muscle. Also called Type II glycogen storage disease.
Pompe disease (PD) is a rare, heritable disorder of carbohydrate metabolism. PD is typified by glycogen (a complex carbohydrate polymer) deposition in skeletal and heart muscle, which causes progressive weakness, loss of muscle mass, and failure of the heart’s pumping action.