Fast Five Quiz: Management of Pompe Disease

Ranjodh Singh Gill, MD

Disclosures

March 17, 2023

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.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.

processing....