Difference between revisions of "Glycogen storage diseases"

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==Microscopic==
==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. (???)


Images:
Images:

Revision as of 18:33, 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.