Glycogen Storage Disease



Glycogen Storage Disease


Monica P. Revelo, MD, PhD









H&E-stained section at low magnification shows myocardium with marked cytoplasm vacuolization of myocytes with empty appearance and paucity of myofibrils image.






H&E-stained section at higher magnification shows myocytes with lacework appearance, empty-appearing cytoplasm, and loss of myofibrils image.


TERMINOLOGY



ETIOLOGY/PATHOGENESIS


Inherited Enzyme Deficiency



  • Glycogen storage disease II (Pompe disease): α-1,4-glucosidase


  • Glycogen storage disease III (Cori disease): Amylo-1,6-glucosidase


  • Glycogen storage disease IV (Andersen disease): α-1,4-glucan 6-glycosyl transferase


  • AMP-activated protein kinase deficiency: γ-2 regulatory subunit of enzyme controlling uptake of glucose

Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Glycogen Storage Disease
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