Incidence & Prevalence

Current estimates for Pompe disease put the overall disease incidence at approximately 1 in 40,000 live births.[1], [2]

However, as with any rare disease, it is difficult to know exactly how many people are actually affected. Extrapolating from the assumed incidence figures, it is estimated that the current worldwide prevalence may be 5,000-10,000 people—of both genders and of varying ages and ethnicities.

Ethnic Distribution

The estimated incidence of 1 in 40,000 reflects a worldwide average. However, several studies suggest that incidence rates may vary rates among populations, and reported estimates range from 1 in 14,000 to 1 in 300,000, depending on geographic area or ethnic group examined.[3]

In infants, the disease appears to be more common among African-Americans and in southern China and Taiwan,[3] while adults with Pompe disease may have a comparatively high incidence in the Netherlands.[1] In addition, some of the specific GAA gene mutations have been identified as more common within certain groups.

Find out more about GAA mutation variants 

References

  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. 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.

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