Difference between revisions of "Glycogen storage diseases"

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m (fix... after rename)
(→‎Stains: +see also)
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*[[PAS stain|PAS]] +ve.
*[[PAS stain|PAS]] +ve.
*[[PAS-D stain|PAS-D]] -ve.
*[[PAS-D stain|PAS-D]] -ve.
==See also==
*[[Lysosomal storage diseases]].


==References==
==References==

Revision as of 15:19, 24 January 2011

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

See also

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.