Wilson's disease features copper accumulation due to what defect?

Wilson's disease features copper accumulation due to what defect?

• A. Genetic deficiency of copper metabolism
• B. Increased copper absorption due to low bile acids
• C. Liver failure causing decreased copper excretion
• D. Excess dietary copper intake

Answer: (A)

Wilson disease results from a genetic defect in copper metabolism due to mutations in ATP7B, the hepatic copper-transporting ATPase. This defect impairs both loading copper onto ceruloplasmin and excretion of copper into bile. As a result, copper accumulates in the liver and eventually spills into the bloodstream and other organs, leading to hepatic, neurological, and ocular issues, with low ceruloplasmin levels reflecting the impaired copper loading. This accumulation is driven by a genetic transport defect, not by increased intestinal absorption, liver failure, or excess dietary copper.

Wilson disease results from a genetic defect in copper metabolism due to mutations in ATP7B, the hepatic copper-transporting ATPase. This defect impairs both loading copper onto ceruloplasmin and excretion of copper into bile. As a result, copper accumulates in the liver and eventually spills into the bloodstream and other organs, leading to hepatic, neurological, and ocular issues, with low ceruloplasmin levels reflecting the impaired copper loading. This accumulation is driven by a genetic transport defect, not by increased intestinal absorption, liver failure, or excess dietary copper.