Glycogen storage disease
Updates to Article Attributes
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was changed:
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:
-
type I:
Vonvon Gierke disease - type II: Pompe disease
-
type III: Cori
/ Forbe/Forbe disease - type IV: Andersen disease
-
type V:
Mc ArdleMcArdle disease - type VI: Her's disease
- type VII: muscle phosphofructokinase deficiency (Tarui's disease)
- type IX
: - type XI: Fanconi-bickel syndrome
- type XII
: - type 0
:
Note that types VII and X are not on the list since they have now been re classifiedreclassified.
They can also be broadly grouped into myopathic, hepatic and miscellaneous forms depending on the site of predominant organ involvement.
Radiographic features
CanImaging appearances vary according to the type. Hepatomegaly is seen in the hepatic sub types subtypes 2 along with increased echogenicity (US) and density (CT) 3.
-<p><strong>Glycogen storage disease</strong> <strong>(GSD)</strong> refers to a number of syndromes which are characterised by a defect in synthesis, metabolism or storage of glycogen </p><p>There are many types</p><ul>- +<p><strong>Glycogen storage disease</strong> <strong>(GSD)</strong> refers to a number of syndromes which are characterised by a defect in synthesis, metabolism or storage of glycogen.</p><h4>Pathology</h4><p>There are many types of GSD:</p><ul>
-<strong>type I: </strong><a href="/articles/von-gierke-disease">Von Gierke disease</a>- +<strong>type I: </strong><a href="/articles/von-gierke-disease">von Gierke disease</a>
-<strong>type III:</strong> <a href="/articles/cori-forbe-disease">Cori / Forbe disease</a>- +<strong>type III:</strong> <a href="/articles/cori-forbe-disease">Cori/Forbe disease</a>
-<strong>type V:</strong> <a href="/articles/mc-ardle-disease">Mc Ardle disease</a>- +<strong>type V:</strong> <a href="/articles/mc-ardle-disease">McArdle disease</a>
-<li><strong>type IX:</strong></li>- +<li><strong>type IX</strong></li>
-<li><strong>type XII:</strong></li>-<li><strong>type 0:</strong></li>-</ul><p>Note that types VII and X are not on the list since they have now been re classified. </p><p>They can also be broadly grouped into myopathic, hepatic and miscellaneous forms depending on the site of predominant organ involvement. </p><h4>Radiographic features</h4><p>Can vary according to the type. <a href="/articles/hepatomegaly">Hepatomegaly</a> is seen in the hepatic sub types <sup>2</sup> .</p>- +<li><strong>type XII</strong></li>
- +<li><strong>type 0</strong></li>
- +</ul><p>Note that types VII and X are not on the list since they have now been reclassified. </p><p>They can also be broadly grouped into myopathic, hepatic and miscellaneous forms depending on the site of predominant organ involvement. </p><h4>Radiographic features</h4><p>Imaging appearances vary according to the type. <a href="/articles/hepatomegaly">Hepatomegaly</a> is seen in the hepatic subtypes <sup>2</sup> along with increased echogenicity (US) and density (CT) <sup>3</sup>.</p>
References changed:
- 3. Weissleder R, Wittenberg J, Harisinghani MMGH et-al. Primer of Diagnostic Imaging. Mosby. (2011) ISBN:0323065384. <a href="http://books.google.com/books?vid=ISBN0323065384">Read it at Google Books</a> - <a href="http://www.amazon.com/gp/product/0323065384">Find it at Amazon</a><span class="ref_v3"></span>
Systems changed:
- Hepatobiliary
- Musculoskeletal
Sections changed:
- Syndromes
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