Pompe disease is caused by the lack of an enzyme called acid alpha glucosidase. It is an inherited metabolic condition that, at present cannot be cured.
Sugar is digested and stored throughout the body, one of the storage places is in the muscles. This is used as an energy source to give short bursts of power when needed for strength or stamina.
The missing enzyme normally breaks down the sugar (glycogen) and passes it through the lysosomal system, a waste disposal system. In a person without the missing enzyme this causes no problem at all and the sugar is usually turned into energy for when it is needed.
For those with the missing enzyme the glycogen does not break down and cannot pass through the lysosomes, this causes them to overload and break down the muscle cells. The result is the muscles slowly deteriorate and the person is left with a series of symptoms that affect everyday life.
