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.[1], [2] However, Pompe can affect people of all ages, with symptoms first occurring at any time from infancy to adulthood.[1]

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.

Disease Characteristics

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.

Pronouncing “Pompe”

There are different pronunciations for Pompe disease. In the United States, “pom-PAY” is typical, while in Europe it is usually pronounced “pomp-uh.”


  1. 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.
  2. 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.

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Organizations & Websites

Get lists of online resources and worldwide organizations and associations that offer information, support, and more for people living with Pompe disease.

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