Which statement best describes Wilson's disease?

Which statement best describes Wilson's disease?

• A. Copper accumulation in the liver and other organs due to a genetic deficiency of copper metabolism.
• B. Copper accumulation occurs due to excessive copper intake leading to systemic copper overload.
• C. Copper deficiency causes hepatic failure in Wilson's disease.
• D. Wilson's disease is characterized by increased biliary copper excretion.

Answer: (A)

Wilson's disease is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene, which impairs hepatic copper excretion into bile and incorporation of copper into ceruloplasmin. This defect leads to copper accumulation in the liver and then in other organs such as the brain and cornea. That accumulation pattern from a transport defect best fits the statement describing copper buildup due to a genetic deficiency in copper metabolism. The other ideas describe overload from intake, deficiency, or increased excretion, none of which capture the underlying transport defect and resultant copper accumulation seen in Wilson's disease.

Wilson's disease is a genetic disorder of copper metabolism caused by mutations in the ATP7B gene, which impairs hepatic copper excretion into bile and incorporation of copper into ceruloplasmin. This defect leads to copper accumulation in the liver and then in other organs such as the brain and cornea. That accumulation pattern from a transport defect best fits the statement describing copper buildup due to a genetic deficiency in copper metabolism. The other ideas describe overload from intake, deficiency, or increased excretion, none of which capture the underlying transport defect and resultant copper accumulation seen in Wilson's disease.