Difference between revisions of "Glycogen storage diseases"

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(+Pompe disease)
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Images:
Images:
*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].
*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)].
==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>
Physiologic function of ''alpha-1,4-glucosidase'':
*Acid alpha-glucosidase degrades glycogen to glucose in lysosomes.
Clinical:
*Floppy baby.
*Big heart.
**Often early death from cardiac failure.


==Stains==
==Stains==

Revision as of 18:30, 11 January 2011

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

Microscopic

Features:[1]

  • +/-Vacuolated muscle fibres.

Images:

Pompe disease

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

Physiologic function of alpha-1,4-glucosidase:

  • Acid alpha-glucosidase degrades glycogen to glucose in lysosomes.

Clinical:

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

Stains

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.