2020 April Fools' Case: Normally we'd prank you with this but given the current COVID-19 crisis we decided just to release it straight up without trying to trick anyone. Hopefully you can at least still enjoy a little laugh at this difficult time - view case

Glycogen storage disease

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


There are many types of GSD:

Note that types VII 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.

Inborn errors of metabolism
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Article information

rID: 7632
Section: Syndromes
Tag: cases, cases
Synonyms or Alternate Spellings:
  • Glycogenosis

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