Pompe Disease Statistics

Pompe disease is very rare and is estimated to affect between 5,000 and 10,000 people worldwide.[1], [2] Because it is so rare and can be difficult to diagnose, the exact numbers of affected individuals are hard to determine.

It is estimated that about 1 in 40,000 people are born with two copies of the acid alpha-glucosidase (GAA) gene containing a defect that causes Pompe disease.[1], [2] These affected individuals all have the disease at birth, but the age at which symptoms first appear varies widely from person to person.

Pompe disease occurs in both men and women and has been found to affect both genders equally.

Gene Variations

There are many different defects, or mutations, that can affect the GAA gene. Most people with the disease inherit two different GAA gene mutations, one from each of their parents. Researchers have already identified approximately 300 distinct mutations (although not every one of these always causes Pompe disease), and more continue to be found.[3]

Ethnic Group Frequency

Research has shown that Pompe disease is pan-ethnic—it occurs in people of all ethnicities and races. There does appear to be a slightly higher incidence rate in certain groups:[1], [2]

  • In infants, the disease has a higher frequency among African-Americans and people from southern China and Taiwan[4]
  • Among adults, the disease has a higher frequency in the Netherlands[1]

In addition, specific gene mutations have been found to be more common in certain ethnic groups or nationalities.[1], [5-7] It’s still unclear exactly why these higher frequencies exist in certain groups, although the disease’s genetic basis and family inheritance patterns are likely major contributing factors.


  1. Ausems MG, Verbiest J, Hermans MP et al. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counseling. Eur J Hum Genet 1999 Sep;7(6):713-6.
  2. Martiniuk F, Chen A, Mack A et al. Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. Am J Med Genet 1998 79:69-72.
  3. Kroos M, Pomponio RJ, van Vliet L, Palmer RE, Phipps M, Van der Helm R, Halley D, Reuser A, the GAA Database Consortium. Update of the Pompe Disease Mutation Database with 107 Sequence Variants and a Format for Severity Rating. Mutation in Brief #1006, 29:E13-E26, 2008 (Online).
  4. 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.
  5. Huie ML, Chen AS, Tsujino S et al. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. Hum Mol Genet 1994 3:2231-6.
  6. Shieh JJ, Lin CY. Frequent mutation of Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect. Hum Mutat 1998 11:306-12.
  7. Becker JA, Vlach J, Raben N et al. The African origin of the common mutation in African American patients with glycogen-storage disease type II. Am J Hum Genet 1998 62:991-4.

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