Glycogen storage diseases

From Libre Pathology
Revision as of 15:18, 24 January 2011 by Michael (talk | contribs) (fix... after rename)
Jump to navigation Jump to search

Glycogen storage diseases 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.
Retrieved from "https://librepathology.org/w/index.php?title=Glycogen_storage_diseases&oldid=3800"