Pompe Disease

Pompe disease is a lysosomal storage disorder that damages skeletal, smooth, and cardiac muscle. It is caused by pathogenic variations in the GAA gene containing the information for production and function of a protein called acid alpha-glucosidase (GAA). Because of the shortage of this protein (an enzyme) a complex sugar called glycogen cannot be degraded to a simple sugar like glucose. For this reason, Pompe is also classified as a glycogen storage disorder.  The disease starts and progresses at various stages of an individual’s life. It also varies in severity considerably. Common symptoms are an enlarged liver, respiratory complications, feeding and swallowing problems, problems in muscular development, and motor abilities. Males and females are equally affected at a rate of 1 in every 40,000 births in the US.