Difference between revisions of "Glycogen storage diseases"
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(+Pompe disease) |
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*[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)]. | *[http://neuromuscular.wustl.edu/pathol/acidmalt.htm Glycogen storage disease (wustl.edu)]. | ||
*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)]. | |||
==Pompe disease== | ==Pompe disease== | ||
Revision as of 18:32, 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
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
- ↑ URL: http://neuromuscular.wustl.edu/pathol/acidmchi.htm. Accessed on: 11 January 2011.
- ↑ URL: http://www.ncbi.nlm.nih.gov/omim/606800. Accessed on: 11 January 2011.