Pompe disease (type II glycogen storage disease) is an inherited enzyme defect that is part of a group of metabolic diseases called lysosomal storage disorders. The affected enzyme alpha-glucosidase (GAA, also called acid maltase) catalyzes reactions that convert glycogen to monosaccharides, of which glucose is the predominant component. The GAA deficiency leads to the accumulation of glycogen within the lysosome and cytoplasm in all tissues. The two major phenotypes of Pompe disease are infantile-onset (classic and nonclassic variants) and late-onset (includes childhood, juvenile, and adult-onset).
Although at present no cure exists, diet therapy and enzyme replacement therapy (ERT) are highly effective at reducing clinical manifestations. In some patients, liver transplantation may abolish biochemical abnormalities.
How much do you know about the presentation and diagnosis of Pompe disease? Test your knowledge with this quick quiz.
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Cite this: Ranjodh Gill. Fast Five Quiz: Presentation and Diagnosis of Pompe Disease - Medscape - Mar 17, 2023.