Pompe Disease

  • Alexander Peter Murphy
  • Volker StraubEmail author


Pompe disease is a rare progressive multisystem disorder first identified in 1932, and caused by a deficiency of the enzyme acid α-glucosidase. To date, over 350 pathogenic mutations have been identified in the gene which codes for this enzyme (GAA). Mutations causing Pompe disease are highly ethnicity dependent and may suggest founder mutations.

Pompe disease can present at any time of life, from the more severe classical infantile to the adult onset form. Due to the insidious onset of symptoms and the rareness of the disease; diagnosis of Pompe disease is often delayed. Investigations which may aid in diagnosis include serum creatine kinase, dried blood spot testing, periodic acid-Schiff (PAS) staining, immunohistochemical analysis of muscle biopsy, magentic resonance imaging and molecular genetic testing.

Management of Pompe disease is multidisciplinary and patients require regular review. Supportive treatments include appropriate ventilatory support and physiotherapy to maintain ambulation. Enzyme replacement therapy (ERT) has been given to patients for more than a decade and has shown significant improvements in survival of patients with classical infantile Pompe disease. Future research is directed at improving ERT via regulation of autophagy and immune modulation regimens.


Pompe disease Glycogen storage disease type 2 Pathogenesis Magnetic resonance imaging Enzyme replacement therapy 



The authors would like to thank the team at the Newcastle University John Walton Muscular Dystrophy Research Centre for their support and the MYO-MRI COST Action (BM1304) for information on MRI findings. Diagnostic facilities at the John Walton Muscular Dystrophy Research Centre are supported by the Rare Diseases Advisory Group Service for Neuromuscular Diseases (NHS England). Clinical research could not take place without close involvement of patients and their families who volunteer to participate in trials and give permission for invasive procedures. The John Walton Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases.

Disclosure Statement

VS is or has been a principal investigator for trials sponsored by Genzyme/Sanofi, GSK, Prosensa/Biomarin, ISIS Pharmaceuticals, and Sarepta. He received speaker honoraria from Genzyme/Sanofi, is a member of the international Pompe advisory board of Genzyme/ Sanofi, and has been on advisory boards for Acceleron Pharma, Audentes, Italfarmaco S.p.A., Nicox, Pfizer, Prosensa, Santhera and TrophyNOD. He also has a research collaboration with Ultragenyx and Genzyme/Sanofi.


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, The International Centre for Life, Newcastle UniversityNewcastle Upon TyneUK

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