Glycogen storage diseases

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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.
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