Pompe disease is caused by a deficiency of acid alphaglucosidase (GAA) enzyme activity, resulting in lysosomal glycogen accumulation in muscles and irreversible muscle damage1-3

About Pompe disease

Pompe disease most commonly affects the respiratory and musculoskeletal muscles.1
Patients with Pompe disease will usually present with a broad spectrum of clinical phenotypes at different ages:2

  • As infants, also known as infantile-onset Pompe disease (IOPD)
  • As children and adults, which is also known as late-onset Pompe disease (LOPD)

Pompe disease is also known as: acid maltase deficiency or glycogen storage type II disease (GSD II).1

Pompe disease is a life-limiting, progressive neuromuscular disorder caused by an inherited deficiency of enzyme activity leading to irreversible muscle damage1,2,5,6 – but enzyme replacement therapy is available7

Illustration based on Thurberg, et al. 2006.4


Incidence estimates for Pompe disease range from 1 in 40,000 to 1 in 250,000. However, it is difficult to know exactly how many people are actually affected.

It is estimated that the current worldwide prevalence may be 5,000 to 10,000.8-10

Genetics and inheritance

A gene located on chromosome 17 encodes for the production of acid alpha-glucosidase (GAA), the enzyme responsible for breaking down glycogen to glucose inside lysosomes.12 A genetic mutation within this gene causes a deficiency, or complete absence, of GAA enzyme which results in intra-lysosomal accumulation of glycogen, primarily in muscle cells.13 Pompe disease is an inherited autosomal recessive disease: two faulty genes must be inherited from both parents for the person to develop Pompe disease.14

It is estimated that the current worldwide prevalence may be 5,000 to 10,000.8-10

    1. Hirschhorn R, et al. The Metabolic and Molecular Basis of Inherited Disease 2001;8(3):3389–3420
    2. American Association of Neuromuscular & Electrodiagnostic Medicine. Muscle Nerve 2009; 40(1):149–160
    3. Fukada T, et al. Mol Ther. 2006;14(6):831–839
    4. Thurberg BL, et al. Lab Invest. 2006;86(12):1208–1220
    5. Hagemans ML, et al. Neurology 2005;64(12):2139–2141
    6. Kishnani PS, et al. Genet Med. 2006; 8(5):267–288
    7. Myozyme Summary of Product Characteristics. Accessed April 2021
    8. Ausems MG, et al. Eur J Hum Genet. 1999;7(6):713–6
    9. Martiniuk F et al. Am J Med Genet. 1998;79:69–72
    10. AGSD, Pompe Disease (GSD2). Website, available online here: https://agsd.org.uk/all-about-gsd/gsd-variants/pompe-disease-gsd2 / [Last accessed October 2019]
    11. Data on File, MAT-GB-2005230
    12. Hirschhorn R, et al. Acta Myol. 2007;26(1):67–71
    13. Pittis MG, et al. Acta Myol. 2007;26(1):67–71
    14. Pompe Disease - NORD (National Organization for Rare Disorders). Website, available here: https://rarediseases.org/rare-diseases/pompe-disease/ [Last accessed October 2019]

MAT-GB-2105180 (v1.0)
Date of preparation: April 2022