Glycogen storage disease
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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:
- type I: von Gierke disease
- type II: Pompe disease
- type III: Cori or Forbes disease
- type IV: Andersen disease
- type V: McArdle disease
- type VI: Her disease
- type VII: muscle phosphofructokinase deficiency (Tarui disease)
- type IX
- type XI: Fanconi-Bickel syndrome
- type XII
- type 0
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.
Imaging appearances vary according to the type. Hepatomegaly is seen in the hepatic subtypes 2 along with increased echogenicity (US) and density (CT) 3.
- 1. Scherer A, Engelbrecht V, Neises G et-al. MR imaging of bone marrow in glycogen storage disease type IB in children and young adults. AJR Am J Roentgenol. 2001;177 (2): 421-5. AJR Am J Roentgenol (full text) - Pubmed citation
- 2. Miller JH, Stanley P, Gates GF. Radiography of glycogen storage diseases. AJR Am J Roentgenol. 1979;132 (3): 379-87. AJR Am J Roentgenol (abstract) - Pubmed citation
- 3. Weissleder R, Wittenberg J, Harisinghani MMGH et-al. Primer of Diagnostic Imaging. Mosby. (2011) ISBN:0323065384. Read it at Google Books - Find it at Amazon