Glycogen storage disease
Citation, DOI, disclosures and article data
At the time the article was created Yuranga Weerakkody had no recorded disclosures.
View Yuranga Weerakkody's current disclosuresAt the time the article was last revised Ciléin Kearns had no financial relationships to ineligible companies to disclose.
View Ciléin Kearns's current disclosures- Glycogenosis
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:
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.
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.
Quiz questions
References
- 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
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- Pulmonary hypertension (2008 classification)
- Hepatic adenomatosis
- Myopathy
- Osteoporosis (differential)
- Beta catenin mutated hepatic adenoma
- Pulmonary hypertension (2003 classification)
- Generalised increase in hepatic echogenicity
- Pulmonary hypertension (differential)
- Hepatic attenuation on CT
- Pulmonary hypertension (2013 classification)
- Hepatosplenomegaly
- Hepatic adenoma
- Fetal akinesia sequence
- Differential diagnosis of vascular calcification
- Coarsened hepatic echotexture
- Cardiomyopathy (WHO/ISFC 1995 classification)
- Storage disorders
- Hepatoblastoma
- Hepatomegaly
- Hypertrophic cardiomyopathy
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