Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease)

Wayne E. Anderson, DO


August 06, 2021

Endocardial fibroelastosis can cause respiratory and feeding difficulties, cardiomegaly, and heart failure, as may be seen with glycogen storage disease type II, but without the significant muscle weakness that characterizes the latter disorder. The etiology of endocardial fibroelastosis is often viral, but familial cases with X-linked, autosomal-dominant, and autosomal-recessive inheritance have been described.

Other conditions that may be considered in the differential diagnosis of glycogen storage disease type II include:

  • Spinal muscular atrophy type 1 (Werdnig-Hoffman disease)

  • Glycogen storage disease type IIb (Danon disease)

  • Carnitine uptake disorder

  • Glycogen storage disease type III (Cori disease or Forbes disease)

  • Glycogen storage disease type IV (Andersen disease)

  • Idiopathic hypertrophic cardiomyopathy

  • Myocarditis

  • Mitochondrial/respiratory chain disorders

Learn more about the differential diagnosis of glycogen storage disease type II.


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