This website contains promotional content and is intended for Healthcare Professionals based in the United Kingdom only. Some content is only relevant to HCPs practising in Great Britain (England, Scotland, Wales). This website is optimised for desktop use, and some features may perform differently on mobile devices.

Adverse event reporting can be found at the bottom of the page.

Campus
  1. Article
  2. Source: Campus Sanofi
  3. 23 Oct 2023

What is Pompe disease?

Author: Sanofi

Editorial Team

Pompe disease (glycogen storage type II disease) is caused by a deficiency of acid alphaglucosidase (GAA) enzyme activity, resulting in lysosomal glycogen accumulation in muscles and irreversible muscle damage.1-3

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

Signs and Symptoms of Pompe disease

Signs and Symptoms of Pompe disease

Epidemiology

Incidence estimates for Pompe disease range from 1 in 33,333 to 1 in 138,0008-9. However, it is difficult to know exactly how many people are actually affected.

It is estimated that the current worldwide prevalence may be 1 in 57000.10

Why test early for Pompe disease?

Why test early for Pompe disease?

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

At 1 in 57,000 people10 there are estimated to be other 1,000 people with Pompe in the UK alone.

Pacient with Pompe disease, testing and diganosis

Testing and Diagnosis of Pompe disease

Pacient with Pompe disease, testing and diganosis

Testing and Diagnosis of Pompe disease

Illustration based on Thurberg, et al. 2006.4

References
  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 August 2022
  8. Chien YH, Chiang SC, Zhang XK, Keutzer J, Lee NC, Huang AC, et al. Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan Screening Program. Pediatrics 2008; 122: e39–45.
  9. Ausems MGEM, Verbiest J, Hermans MMP, Kroos MA, Beemer FA, Wokke JH, et al. Frequency of glycogen storage disease type II in the Netherlands: implications for diagnosis and genetic counselling. Eur J Hum Genet 1999; 7: 713–716.
  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. Ausems MGEM, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJJ, Wokke JHJ. A diagnostic protocol for adult-onset glycogen storage disease type II. Neurology 1999; 52: 851–853.
  12. Reuser AJ, Hirschhorn R, Kroos MA. Pompe Disease: Glycogen Storage Disease Type II, Acid α-Glucosidase (Acid Maltase) Deficiency. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed August, 2022. https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225890450
  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-XU-2202602 (v2.0) Date of preparation: October 2023