Health Questions and Answers

Question: What is Wilson’s disease?

Answer:

It is an autosomal recessive genetic disorder characterized by an accumulation of copper in the liver and brain. The Wilson’s gene is ATP7B, which is either absent or markedly diminished in Wilson’s disease. The lack of the gene results in diminished synthesis of ceruloplasmin and/or defective transport of hepatocellular copper into bile for excretion.

Reference: Sleisenger MH, Fordtran JS (eds): Gastrointestinal Disease: Pathophysiology, Diagnosis, and Management, 7th ed. Philadelphia, W.B. Saunders, 2003.

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