Which of the following is true about Wilson disease-
**Core Concept**
Wilson disease is a rare genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs. This occurs due to mutations in the ATP7B gene, which plays a crucial role in regulating copper transport and metabolism.
**Why the Correct Answer is Right**
The correct answer will be related to the pathophysiology of Wilson disease. In this condition, the ATP7B gene mutation leads to impaired copper excretion from the liver into the bile, resulting in its accumulation. This accumulation can cause liver damage, neurological symptoms, and other systemic complications. The correct answer might relate to the mechanism of copper transport or the consequences of its accumulation.
**Why Each Wrong Option is Incorrect**
**Option A:** This option might suggest that Wilson disease is caused by a deficiency of ATP7B, which is incorrect. The disease is caused by mutations in the ATP7B gene, leading to its dysfunction.
**Option B:** This option might propose that Wilson disease is characterized by copper deficiency, which is incorrect. Wilson disease is actually caused by excessive copper accumulation, not deficiency.
**Option C:** This option might suggest that Wilson disease is caused by a mutation in the ATP7A gene, which is incorrect. Wilson disease is specifically caused by mutations in the ATP7B gene.
**Clinical Pearl / High-Yield Fact**
Wilson disease is often associated with the Kayser-Fleischer ring, a characteristic corneal deposit of copper that is a hallmark of the disease. It is essential to recognize this clinical feature in patients with suspected Wilson disease.
**Correct Answer: C.**