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Wilson's disease

(Hepatolenticular degeneration) is an autosomal recessive disorder characterized by degenerative changes in the brain, liver disease and Kayser Fleischer rings Q

 

Defective mobilization of copper from lysosomes in the liver cells for excretion into bile is the basis for the multi-organ damage in patients with Wilson's disease.

 

The best screening test is to measure (he serum ceruloplasmin level***
 

Management - Chelation therapy is currently best managed with oral administration of penicillamine. Q





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