Learning About Pompe Disease
Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages. The disease is named after Johannes C. Pompe, a Dutch doctor who first described the disorder in 1932 in an infant patient., 
However, Pompe can affect people of all ages, with symptoms first occurring at any time from infancy to adulthood.
Pompe disease is caused by a defective gene that results in a deficiency of an enzyme, acid alpha-glucosidase (pronounced “AL-fa glue-CO-sih-days” and often abbreviated GAA). The absence of this enzyme results in excessive buildup of a substance called glycogen, a form of sugar that is stored in a specialized compartment of muscle cells throughout the body.
The following pages in this section offer further details about Pompe disease, to help gain a deeper understanding of the underlying cause, progressive nature and classification of the disease.
There are different pronunciations for Pompe disease. In the United States, “pom-PAY” is typical, while in Europe it is usually pronounced “pomp-uh.”
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, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th Edition. New York: McGraw-Hill, 2001. 3389-3420.
Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932 76:304. No abstract available.
Genzyme Support Services
Learn how Genzyme can help people affected by Pompe disease with medical information, advocacy, treatment support, and more.
Organizations & Websites
Get lists of online resources and worldwide organizations and associations that offer information, support, and more for people living with Pompe disease.