Pompe Disease

Pompe disease is a metabolic disease occuring in approximately 1 in every 40,000 births. Pompe disease is a recessive genetic inheritance disorder that is often fatal due to its ability to disable the heart and muscles. The disease is effective from the early stages of life with symptoms such as feeding defficiency, inability to gain muscle and others such as head lag or floppiness. It can also arise respiratory difficulties through lung infections. Later in life the symptoms will worsen with intensive respiratory problems and even a slight enlargement of the heart coinciding with the primary defficiency of muscle weakness.


Pompe is caused when there is a lack, or malfunction of the enzyme alpha-glucosidase (GAA). GAA is responsible for breaking down glycogen which is a stored form of energy. This mutation reduces or completely eliminates the essential enzyme needed in this process, therefore weekening the body causing the malfunctions to occur.

Is there any treatment?

The FDA has recently approved a drug called Myozyme (alglucosidase alfa), which works to replace the defective enzyme therefore rebooting the bodies muscular and respiratory systems. Trials with this medicine have also shown a reduction in heart size allowing normal functions such as muscle production.


By. Coop(aka FOX) and Jamie (aka RAM)