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Difference between revisions of "Glycogen storage diseases"
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Glycogen storage diseases (view source)
Revision as of 00:43, 26 January 2011
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'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen. | '''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen. | ||
= | =General microscopic= | ||
Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref> | Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref> | ||
*+/-Vacuolated muscle fibres. (???) | *+/-Vacuolated muscle fibres. (???) | ||
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*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)]. | *[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)]. | ||
=Electron microscopy= | |||
*Electron dense deposits. | |||
=Specific diseases= | |||
==Pompe disease== | ==Pompe disease== | ||
*[[AKA]] glycogenosis II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref> | *[[AKA]] glycogenosis II, [[AKA]] acid maltase deficiency, [[AKA]] alpha-1,4-glucosidase deficiency.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/606800 http://www.ncbi.nlm.nih.gov/omim/606800]. Accessed on: 11 January 2011.</ref> | ||
===General=== | |||
Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes. | |||
Clinical: | Clinical: | ||
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*Big heart. | *Big heart. | ||
**Often early death from cardiac failure. | **Often early death from cardiac failure. | ||
==Cori disease== | |||
*[[AKA]] glycogen storage disease type III.<ref>URL: [http://www.ncbi.nlm.nih.gov/omim/232400 http://www.ncbi.nlm.nih.gov/omim/232400]. Accessed on: 25 January 2011.</ref> | |||
===General=== | |||
*Hepatomegaly. | |||
===Microscopic=== | |||
Features: | |||
*Hypertrophic hepatocytes with pale cytoplasm. | |||
**Classically: PAS +ve, PAS-D -ve. | |||
*Portal fibrosis. | |||
==Stains== | ==Stains== | ||
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*[[PAS-D stain|PAS-D]] -ve. | *[[PAS-D stain|PAS-D]] -ve. | ||
=See also= | |||
*[[Lysosomal storage diseases]]. | *[[Lysosomal storage diseases]]. | ||
=References= | |||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Weird stuff]] | [[Category:Weird stuff]] | ||