Which condition is characterized by an excess of copper?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Wilson's Disease is a genetic disorder characterized by the accumulation of copper in the body due to a defect in the hepatic copper-transporting ATPase. This condition leads to excessive copper storage in various organs, particularly the liver, brain, and corneas. The liver typically handles copper metabolism by excreting excess copper into bile; however, in Wilson's Disease, the impaired excretion causes copper to build up, potentially resulting in liver damage, neurological symptoms, and psychiatric disturbances.

The diagnosis is often supported by a combination of clinical findings, such as the presence of Kayser-Fleischer rings (copper deposits in the cornea), liver function tests indicating hepatic dysfunction, and low serum ceruloplasmin levels. Genetic testing can identify mutations in the ATP7B gene associated with Wilson's Disease.

While some other options, like hemochromatosis and hemosiderosis, involve iron overload disorders, they do not relate to copper excess. Copper toxicity can refer to acute situations where excess copper is ingested but is not the specific condition associated with the genetic basis and systemic effects characteristic of Wilson's Disease.

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