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)]. | ||
==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
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.