Classifying Pompe Disease

There are a variety of different names and disease categories that are used for Pompe disease. It can be helpful to be familiar with these terms during conversations with doctors. Often the different names reflect some unique aspects of the disease, such as:

  • Its underlying cause
  • The effect it has on cells and on muscles
  • The parts of the body that it affects

More Details: Lysosomal Storage Disorders

Pompe disease belongs to a group of more than 40 rare genetic diseases called lysosomal storage disorders (LSDs). All LSDs share a similar underlying cause: a missing or malfunctioning enzyme in cell lysosomes.

Find out more about these rare and complex disorders 

Pompe Disease Categories

Pompe can be categorized in many ways. As outlined below, it is a:

  • neuromuscular disorder because it is characterized by progressive degeneration of limb and respiratory skeletal muscles, and, in infants, cardiac muscle, causing muscle degeneration and weakness and problems with neuromuscular function and movement
  • genetic disease because it is caused by a defect in a gene that is inherited from both parents Learn more about genetics and genetic disease
  • glycogen storage disease because a substance called glycogen cannot be broken down by the body and is “stored” in cells Learn more the disease’s underlying cause
  • lysosomal storage disorder because the part of the cell in which the glycogen is stored are small compartments called lysosomes Learn more about lysosomal storage disorders
  • metabolic muscle disease because it involves a problem with the metabolism, or breakdown of substances, within muscle cells
  • cardiac disorder because of the heart problems that affect most infants with the disease

Other Names for the Disease

Pompe disease was named after the Dutch doctor Johannes C. Pompe,[1] who first described the disease in 1932. However, there are several other names that doctors may use, that reflect either the specific enzyme deficiency or the glycogen substance involved in the disease:[2]

  • Acid maltase deficiency (AMD)
  • Glycogen storage disease (GSD) type II
  • Glycogenosis type II
  • Acid alpha-glucosidase deficiency
  • Lysosomal alpha-glucosidase deficiency

  1. Pompe J-C. Over idiopatische hypertropie van het hart. Ned Tijdscr Geneeskd 1932 76:304. No abstract available.
  2. 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.

Genzyme Support Services

Learn how Genzyme can help people affected by Pompe disease with medical information, advocacy, treatment support, and more.

Learn 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.

Learn More