Glycogen storage diseases

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Glycogen storage diseases a group of diseases characterized by the accumulation of glycogen.

General microscopic

Features:[1]

  • +/-Vacuolated muscle fibres. (???)

Images:

Electron microscopy

  • Electron dense deposits.

Specific diseases

Pompe disease

  • AKA glycogenosis II, AKA acid maltase deficiency, AKA alpha-1,4-glucosidase deficiency.[2]

General

Deficiency of alpha-1,4-glucosidase; it degrades glycogen to glucose in lysosomes.

Clinical:

  • Floppy baby.
  • Big heart.
    • Often early death from cardiac failure.

Cori disease

  • AKA glycogen storage disease type III.[3]

General

  • Hepatomegaly.

Microscopic

Features:

  • Hypertrophic hepatocytes with pale cytoplasm.
    • Classically: PAS +ve, PAS-D -ve.
  • Portal fibrosis.

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.
  3. ↑ URL: http://www.ncbi.nlm.nih.gov/omim/232400. Accessed on: 25 January 2011.
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