Definition of Pompe disease

Pompe disease: A genetic (inherited) deficiency of an enzyme called acid alpha glucosidase. This enzyme helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and other muscles, causing extensive damage. Pompe disease, also known as type 2 glycogen storage disease, is one of several types of glycogen storage disease.

The inheritance of Pompe disease is a recessive condition. It is caused by a gene mutation inherited from both parents who are carriers of the gene. The risk to each of their children is 1 in 4 (25%) to have Pompe disease.

There are several different forms of Pompe disease which vary in severity. One type is rapidly fatal because it damages the heart and the respiratory muscles that are needed for breathing. But the brain is spared, and babies remain as bright and aware as ever while they weaken, become immobile, and then die. It is estimated that at any given time there are 3,000 to 6,000 cases of Pompe disease in the U.S. It is named for a Dutch physician, Johann Cassianius Pompe.

Common Misspellings: pompe diease, pompe desease