Introduction to Pompe disease

Pompe disease is an uncommon genetic metabolic disorder that is also known as Glycogen Storage Disease type 2 or Acid Maltase Deficiency. It is found among different ethnic groups and is caused by an abnormal enzyme (a protein) called acid alpha-glucosidase (GAA). Muscle weakness is a prominent feature in all forms of Pompe disease and the condition is progressive.

Pompe disease is an extremely variable disorder in respect to age at onset, rate of disease progression, and the extent of involvement throughout the body. Disease symptoms may first present during the first months of life or at any time during childhood or adulthood. In some cases, symptoms may first appear in individuals who are in their 40s or 50s.

Pompe is recessively inherited. Both parents are carriers and there is a one in four chance of them having an affected child.


More information

For more information, please visit these two pages on the Pompe.com website:




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