Step 1: Understanding the Concept:
Metals are essential in trace amounts but can be highly toxic if they accumulate in the body's tissues. Wilson disease is a rare inherited genetic disorder of metal metabolism.
Step 2: Detailed Explanation:
1. Pathophysiology: In Wilson disease, a mutation in the ATP7B gene prevents the liver from excreting excess copper into the bile.
2. Accumulation: As a result, copper builds up to toxic levels, primarily in the liver and the brain (basal ganglia). It also deposits in the cornea of the eye, forming characteristic brown "Kayser-Fleischer rings."
3. Treatment: It is managed with copper-chelating agents like Penicillamine or by taking Zinc to block copper absorption.
Step 3: Final Answer:
Wilson disease is fundamentally characterized by the toxic accumulation of copper in vital organs.