Glycogen storage disease type II, also called Pompe disease, is a rare, progressive, genetic condition in which there is an accumulation of glycogen, a source of energy for the body, inside the lysosomes of cells. This occurs due to mutations in the GAA gene, which prevent the production of the enzyme acid alpha-glucosidase (also known as acid maltase) that normally breaks down glycogen. The abnormal accumulation of glycogen within the lysosomes can cause wide-ranging symptoms throughout the body, particularly in myocytes, impairing their function.
The global incidence rate is estimated to be one in 40,000 live births. Infants who have the disease have a 25.7% survival rate at 1 year of age.
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Cite this: Wayne E. Anderson. Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease) - Medscape - Aug 06, 2021.