Pompe disease (type II glycogen storage disease [GSD II]) 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 accumulation of glycogen within the lysosome and cytoplasm in all tissues. The two major phenotypes of Pompe disease are infantile-onset (classic and nonclassic variant) and late-onset (includes childhood-, juvenile-, and adult-onset).
Most patients experience musculoskeletal symptoms, such as weakness and cramps, as well as respiratory symptoms. Classic infantile onset subtype also is marked by cardiac symptoms, such as cardiomyopathy, and gastrointestinal manifestations, including hepato- and splenomegaly.
Diagnosis depends on muscle biopsy, electromyelography, the ischemic forearm test, creatine kinase levels, patient history, and physical examination findings. Biochemical assay for enzyme activity is the method of definitive diagnosis.
How much do you know about the management of Pompe disease? Test your knowledge with this quick quiz.
Medscape © 2023 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Ranjodh Singh Gill. Fast Five Quiz: Management of Pompe Disease - Medscape - Mar 17, 2023.