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Pathophysiology

Lysosomal glycogen accumulation begins before signs of clinical weakness, so early muscle involvement may not be clinically detectable. Healthy myofibrils are eventually replaced by accumulated lysosomal and free muscle glycogen, further impairing muscle function.6

 

pompe muscle biopsy

 

Disease Spectrum

pompe disease spectrum

*Actual GAA activity reference ranges are lab-specific

 

Pompe disease presents across a spectrum of severity and age of onset, which can occur in infancy, childhood, or adulthood. Pompe disease is classified into Infantile-onset (IOPD) or Late-onset Pompe disease (LOPD).4

Manifestations of Infantile-Onset Pompe Disease Can Include:7

infantile onset pompe

Manifestations of Late-Onset Pompe Disease Can Include:4,7,8

late onset pompe

 

References

 

  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 lateā€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. https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/secretary-final-response-pompe.pdf. Accessed October 7, 2019. In.

 

 

 

 

 

 

 

Last Updated: Nov 25, 2019
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