Difference between revisions of "Glycogen storage diseases"

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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.


==Microscopic==
=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===
Physiologic function of ''alpha-1,4-glucosidase'':
Deficiency of ''alpha-1,4-glucosidase''; it degrades glycogen to glucose in lysosomes.
*Acid alpha-glucosidase 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==
=See also=
*[[Lysosomal storage diseases]].
*[[Lysosomal storage diseases]].


==References==
=References=
{{Reflist|2}}
{{Reflist|2}}


[[Category:Weird stuff]]
[[Category:Weird stuff]]

Revision as of 00:43, 26 January 2011

Glycogen storage diseases a group of diseases characterized by the accumulation of glycogen.

General microscopic

Features:[1]

  • +/-Vacuolated muscle fibres. (???)

Images:

Electron microscopy

  • Electron dense deposits.

Specific diseases

Pompe disease

  • AKA glycogenosis II, AKA acid maltase deficiency, AKA alpha-1,4-glucosidase deficiency.[2]

General

Deficiency of alpha-1,4-glucosidase; it degrades glycogen to glucose in lysosomes.

Clinical:

  • Floppy baby.
  • Big heart.
    • Often early death from cardiac failure.

Cori disease

  • AKA glycogen storage disease type III.[3]

General

  • Hepatomegaly.

Microscopic

Features:

  • Hypertrophic hepatocytes with pale cytoplasm.
    • Classically: PAS +ve, PAS-D -ve.
  • Portal fibrosis.

Stains

See also

References

  1. ↑ URL: http://neuromuscular.wustl.edu/pathol/acidmchi.htm. Accessed on: 11 January 2011.
  2. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/606800. Accessed on: 11 January 2011.
  3. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/232400. Accessed on: 25 January 2011.
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