About Pompe Disease

Pompe disease is a lysosomal storage disorder (LSD) caused by a deficiency in acid α-glucosidase (GAA, also called acid maltase). It is an autosomal recessive disorder with considerable phenotypic heterogeneity; both genders are equally affected. Pompe disease is classified into two broad categories based on the age of symptom onset – infantile-onset (up to age 12 months) and late-onset disease (post 12 months of age).1

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Testing & Diagnosis

Patients with Pompe are characterised by having either no or substantially reduced acid α-glucosidase enzyme activity. However, diagnostic delays are common.Contributing factors include the rarity of the disorder, its wide clinical spectrum, signs and symptoms that overlap with those of other neuromuscular disorders, variable diagnostic approaches, lack of awareness of the clinical manifestations and difficulties in completing the diagnostic inventory.6

Case Studies

Pompe Disease Cases

Case studies describe the clinical history of patients from onset of symptoms through to patient diagnosis.

Testing and Diagnosis

Testing and Diagnosis

Learn about diagnostic algorithms and the types of clinical evaluations that can be utilised to help establish the extent and severity of disease in an individual diagnosed with Pompe disease.



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  1. 1.Dasouki M, Jawdat O, Almadhoun O, et al. Pompe disease: literature review and case series. Neurol Clin. 2014;32:751-76, ix.
  2. 2.Angelini C, Nascimbeni AC, Semplicini C. Therapeutic advances in the management of Pompe disease and other metabolic myopathies. Ther Adv Neurol Disord. 2013;6:311-21.
  3. 3.Herzog A, Hartung R, Reuser AJ, et al. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis. 2012;7:35.
  1. 4.Mellies U, Lofaso F. Pompe disease: a neuromuscular disease with respiratory muscle involvement. Respir Med. 2009;103:477-84.
  2. 5.Kishnani PS, Amartino HM, Lindberg C, et al. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A. 2013;161A:2431-43.
  3. 6.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.