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Suraj Prakash Sharma | Ekta Chotia


18.1.5.   Glycogen storage disorders

(1)          Von Gierke’s Disease –

Clinical manifestations is fatty liver -> distended abdomen

Many different kinds depending on mutated enzyme

This disease is caused by of mutation in G 6-Pase.

This disease is characterized by normal glycogen level but high levels of trapped phospho-sugars in the form of glucose 6 phosphate.

(2)          McArdle’s disease

This is because of mutation in phosphorylase kinase in muscle however the isoenzyme present in the liver is normal.

ATP availability is decrease resulted into damage of muscle.

(3)          Pompe's Disease

Caused due to mutation in glucosidase enzyme which is usually found in lysosomes.

Leads to large increases in glycogen found in lysosomes in nearly every tissue in the body. Once the glycogen particles are in the lysosome it can no longer function normally. and death occurs at an early age from heart failure.

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