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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

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References

MAT-NO-2400290 v1.0 08/2024