Pompe disease is named after Joannes Cassianus Pompe, who first described a case of idiopathic hypertrophy of the heart in a 7-month old infant in the Netherlands in 1932, noting massive vacuolar glycogen accumulation not only in the heart but and in all tissues examined.1  Later the same year, similar case reports were published by Putschar and Bischoff.1

In the mid-1950s there were two, relevant key discoveries in the fields of biochemistry and cell biology.

Cori delineated the normal pathway for glycogen metabolism, allowing Pompe disease to be classified as glycogen storage disorder type IIand de Duve characterised a new intracellular organelle, the lysosome. But it wasn’t until 1963 that Hers discovered an α-glucosidase enzyme in the lysosome that was active at an acidic pH and capable of releasing glucose from glycogen, and thereby made the connection between lysosomes, the enzyme defect and Pompe disease.Hers predicted that “it can be expected that other deposition diseases might be explained on the basis of the absence of other lysosomal enzymes;making Pompe disease the first of the approximately 50 LSDs that have now been described.

Pompe disease: Historical timeline. 


Adapted from Cupler et al, 20123

Abbreviations: GAA, acid alpha-glucosidase; rbGAA, recombinant human acid alpha-glucosidase; FDA, Food and Drug Administration; LOTS, late-onset treatment study; AANEM, American Association of Neuromuscular & Electrodiagnostic Medicine; EMBASSY, Exploratory Muscle Biopsy, Biomarker, and Imaging Assessment Study. 

Timeline for Pompe disease: 75 years from description to availability of disease-modifying agent. [Colour figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]


  1. 1.Lim JA, Li L, Raben N. Pompe disease: from pathophysiology to therapy and back again. Front Aging Neurosci. 2014;6:177.
  2. 2.Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963;86:11-6.
  1. 3.Cupler EJ, Berger KI, Leshner RT, et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve. 2012;45:319-33.