What is Pompe's disease?
Pompe disease is a rare and debilitating genetic disease that affects both children and adults. Although the age at which the disease starts and the severity of the symptoms differ, most patients experience a gradual weakening of the muscles and increasing difficulty in breathing, due to a loss of strength in the diaphragm, the muscle that supports the lungs. Because of the weakening heart muscle, young children also suffer from heart problems.
Pompe disease (pronounced "pom-PAY" in the US or "POM-puh" in Europe) is named after the Dutch doctor J.C. Pompe, who in 1932 was the first to describe a child with that condition.
People with Pompe disease were born with a deficiency of the enzyme GAA (acid alpha-glucosidase).  This specific enzyme has the task of breaking down excess glycogen, a complex sugar molecule, in a compartment of the cells of our body that we call the lysosome. In the case of Pompe disease, the breakdown process does not go as it should and the accumulated glycogen ultimately affects the muscle function. Pompe disease is both a metabolic muscle disorder and a lysosomal storage disease (LSD, lysosomal storage disease).
Pompe disease shares a common element of muscle atrophy with more than 40 different muscle diseases (often called muscular dystrophies).
Like all lysosomal storage diseases, Pompe disease affects the body's ability to break down complex molecules in the lysosome.
- Hirschhorn, Rochelle and Arnold J. J. Reuser. Glycogen Storage Disease Type II: Acid Alpha-glucosidase (Acid Maltase) Deficiency. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.