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Overview and Etiology



Pompe disease (also known as acid maltase deficiency or glycogen storage disease type II) is a rare genetic lysosomal storage
disease with a wide range of clinical phenotypes, presenting
in infancy, childhood, or adulthood.1,4 Pompe disease is inherited in an autosomal recessive manner and caused by two pathogenic variants in the GAA gene. This leads to an absence or deficiency of the lysosomal enzyme acid α-glucosidase (GAA), essential for the degradation of glycogen. It results in progressive accumulation of lysosomal glycogen that can affect all muscle types.4

pompe etiology

Pompe disease is inherited in an autosomal recessive manner. With each pregnancy, the chances are:5

  • 1 in 4 (25%) that the child will receive two pathogenic variants and will be affected with Pompe disease
  • 2 in 4 (50%) that the child will be a carrier
  • 1 in 4 (25%) that the child will be unaffected

pompe inherit

Although the true frequency cannot be fully determined, it is estimated that the worldwide prevalence of Pompe disease is 1:40,000.4



  1. Kishnani PS, Howell RR. Pompe disease in infants and children. The Journal of Pediatrics 2004;144:S35-S43.
  2. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet 2008;372:1342-53.
  3. Toscano A, Montagnese F, Musumeci O. Early is better? A new algorithm for early diagnosis in late onset Pompe disease (LOPD). Acta Myol 2013;32:78-81.
  4. AANEM. Diagnostic criteria for late‐onset (childhood and adult) Pompe disease. Muscle & Nerve 2009;40:149-160.
  5. Taglia A, Picillo E, D'Ambrosio P, Cecio MR, Viggiano E, Politano L. Genetic counseling in Pompe disease. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2011;30:179-181.
  6. Hesselink RP, Wagenmakers AJ, Drost MR, Van der Vusse GJ. Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. Biochim Biophys Acta 2003;1637:164-70.
  7. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genetics in medicine : official journal of the American College of Medical Genetics 2006;8:267-288.
  8. Remiche G, Herbaut AG, Ronchi D, Lamperti C, Magri F, Moggio M, et al. Incontinence in late-onset Pompe disease: an underdiagnosed treatable condition. Eur Neurol 2012;68:75-8.
  9. Kishnani PS, Amartino HM, Lindberg C, Miller TM, Wilson A, Keutzer J. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A 2013;161a:2431-43.
  10. Secretary's Final Response RE Committee's Recommendation to add Pompe Disease to the RUSP [Internet]. Recommendations to HHS Secretary with Responses. U.S. Department of Health and Human Services. 2015. Accessed October 7, 2019. In.







Last Updated: Feb 5, 2021
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New to molecular testing?
This 4 minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time, and offers tips along the way.



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