Wilson disease is due to accumulation of:September 2005
## **Core Concept**
Wilson disease, also known as hepatolenticular degeneration, is a genetic disorder characterized by excessive accumulation of a specific metal in the body, primarily affecting the liver and brain. This condition is caused by mutations in the **ATP7B gene**, which plays a crucial role in regulating the transport of copper in the liver.
## **Why the Correct Answer is Right**
The correct answer, **Copper**, is right because Wilson disease is indeed caused by the accumulation of copper due to impaired excretion. The **ATP7B gene** provides instructions for making a protein that is involved in the transport of copper from the liver to other parts of the body and in the removal of excess copper from the body. Mutations in this gene lead to decreased excretion of copper into the bile and decreased incorporation of copper into ceruloplasmin, resulting in its accumulation in tissues, particularly the liver, brain, and other organs.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Iron - Incorrect because iron accumulation is associated with conditions like hemochromatosis, not Wilson disease.
- **Option B:** Calcium - Incorrect because calcium accumulation is not directly related to the pathophysiology of Wilson disease.
- **Option D:** Zinc - Incorrect because, although zinc is an important trace metal, Wilson disease is specifically related to copper metabolism, not zinc.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for Wilson disease is the presence of **Kayser-Fleischer rings**, which are copper deposits in the Descemet's membrane of the cornea, observed in most patients with neurological symptoms. Early diagnosis and treatment, often with penicillamine or zinc acetate to enhance urinary copper excretion, can significantly improve outcomes.
## **Correct Answer:** . Copper