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Pompe disease

What is Pompe disease?

Pompe disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene encoding acid a-glucosidase (GAA) or acid maltase. The accumulation of its substrate, glycogen, is associated with a broad spectrum of clinical symptoms and varying degrees of progression, symptom onset, organic impairment and severity. Glycogen buildup occurs in various tissues, but skeletal muscle tissue, heart, and smooth muscle are most affected. The most severely ill patients have reduced or absent GAA activity and usually die within the first year of life. Less severely ill patients may not be diagnosed until they reach adulthood. The incidence of Pompe disease is estimated at 1/40,000.1-5

Pompe general info overview

Symptoms2

Pompe disease is classified as follows:

Infantile Pompe disease (IOPD):

  • Patients who exhibit rapidly progressive disease characterized by prominent cardiomegaly, hepatomegaly, weakness and hypotonia and death due to cardiorespiratory failure in the first year. This represents the most severe end of the disease spectrum and is often referred to as classic infantile Pompe disease. Little to no detectable enzyme activity (<1%).
  • Patients with the infantile variant form with slower progression and less severe cardiomyopathy but still presenting in the first year of life are classified as nonclassic infantile Pompe disease.

Late-onset Pompe disease (LOPD):

  • Childhood, juvenile or muscular variant that is a heterogeneous group usually presenting later than infancy and typically not including severe cardiomyopathy.
  • Adult-onset form characterized by a slowly progressive myopathy predominantly involving skeletal muscle that can present as late as the second to sixth decade of life.

References

MAT-SE-2400582 v1.0 08/2024