Glycogen storage disease

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

Pathology

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
Sections: Gamuts, Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Glycogenosis

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