Incidence and prevalence

Estimates from available data put the overall incidence of Pompe disease at approximately 1 in 40,000 live births.

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 to 10,000  people 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. 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. . However with the advent of Newborn screening (NBS) a more accurate picture of the  incidence Bodamer OA et all. Newborn Screening for Pompe Disease. Pediatrics 2017. 140 supplement 1 may become clearer overtime.

Ethnic distribution

Several studies suggest that the incidence of Pompe disease may vary among populations, ranging from 1 in 14,000 to 1 in 300,000, depending on the geographic area or ethnic group  examined Hirschhorn R, Reuser AJ. Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G., eds. The Online Metabolic and Molecular Bases of Inherited Disease. OMMBID.  In infants, Pompe disease appears to be more common among African-Americans and in China Hirschhorn R, Reuser AJ. Glycogen Storage Disease Type II: Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G., eds. The Online Metabolic and Molecular Bases of Inherited Disease. OMMBID.

In terms of adults with Pompe disease, there is a comparatively high incidence of the condition in the  Netherlands 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. . In addition, some specific GAA gene mutations have been found to be more common within certain groups (see ‘Mutations’ section).