Difference between revisions of "Glycogen storage diseases"

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'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.
'''Glycogen storage diseases''' a group of diseases characterized by the accumulation of glycogen.
=Clinical picture=
*Exercise intolerance
*Usually due to specific muscle enzyme defects
DDx:
* Mitochondriopathies
* Carnitine palmitoyltransferase II (CPT2) deficiency


=General microscopic=
=General microscopic=
Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>
Features:<ref>URL: [http://neuromuscular.wustl.edu/pathol/acidmchi.htm http://neuromuscular.wustl.edu/pathol/acidmchi.htm]. Accessed on: 11 January 2011.</ref>
*+/-Vacuolated muscle fibres. (???)
*+/-Vacuolated muscle fibres.  
*acid phosphatase+ve in vaculoes.
*PAS+ve.


Images:
Images:
<gallery>
File:HE_glycogen_storage_disease_highmag.jpg | Abnormal glycogen is not easy to spot in this muscle biopsy HE stain (WC/jensflorian)
File:PAS_glycogen_storage_disease_intermed_mag.jpg | Intramuscular glycogen is usually PAS+++ve (WC/jensflorian)
Trichrom_glycogen_storage_disease_intermed_mag..jpg | Lack of staining in intramuscular deposits, Trichrom Gömöri (WC/jensflorian)
File:Polyglucosan body disease.jpg | Lafora-like polyglucosan bodies in the CNS, low magnification (WC/jensflorian)
File:Adult polyglucosan body disease histopathology.jpg | Lafora-like polyglucosan bodies in the CNS, higher magnification(WC/marvin101)
File:Glycogen storage disorder - Liver.jpg | Large vacuoles in the liver, HE stain (WC/Netha Hussain)
</gallery>
*[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)].
*[http://www.brown.edu/Courses/Digital_Path/systemic_path/hepatobiliary/gsd1.html Glycogen storage disease (brown.edu)].
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*Big heart.  
*Big heart.  
**Often early death from cardiac failure.
**Often early death from cardiac failure.
<gallery>
File:Pompe_vacuoles.jpg | Large vacuoles in Pompe disease (H&E, WC/jensflorian)
File:Phenotypical-variation-within-22-families-with-Pompe-disease-1750-1172-8-182-S1.ogv | Clinical phenotype in Pompe disease (WC/Wens et. al.)
</gallery>


==Cori disease==
==Cori disease==

Revision as of 11:53, 17 April 2015

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

Clinical picture

  • Exercise intolerance
  • Usually due to specific muscle enzyme defects

DDx:

  • Mitochondriopathies
  • Carnitine palmitoyltransferase II (CPT2) deficiency

General microscopic

Features:[1]

  • +/-Vacuolated muscle fibres.
  • acid phosphatase+ve in vaculoes.
  • PAS+ve.

Images:

  • Abnormal glycogen is not easy to spot in this muscle biopsy HE stain (WC/jensflorian)

  • Intramuscular glycogen is usually PAS+++ve (WC/jensflorian)

  • Lack of staining in intramuscular deposits, Trichrom Gömöri (WC/jensflorian)

  • Lafora-like polyglucosan bodies in the CNS, low magnification (WC/jensflorian)

  • Lafora-like polyglucosan bodies in the CNS, higher magnification(WC/marvin101)

  • Large vacuoles in the liver, HE stain (WC/Netha Hussain)

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.

  • Large vacuoles in Pompe disease (H&E, WC/jensflorian)

  • Clinical phenotype in Pompe disease (WC/Wens et. al.)

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.

Image:

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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