Glycogen storage disease

Last revised by Daniel J Bell on 09 Sep 2020

Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen.

Pathology

There are many types of GSD:

Note that types VIII and X are not on the list since they have now been reclassified. 

They can also be broadly grouped into myopathic, hepatic and miscellaneous forms depending on the site of predominant organ involvement.   

Radiographic features

Imaging appearances vary according to the type. Hepatomegaly is seen in the hepatic subtypes 2 along with increased echogenicity (US) and density (CT) 3.

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