All are true about Wilson’s disease except
**Core Concept**
Wilson's 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 condition is caused by 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 is not provided, but we can explain the true statements about Wilson's disease. Wilson's disease is an autosomal recessive disorder, and it typically presents in childhood or adolescence. Patients often exhibit symptoms such as liver disease, neurological disorders, and psychiatric problems. The disease is diagnosed through a combination of clinical evaluation, laboratory tests (including serum ceruloplasmin levels and 24-hour urine copper excretion), and genetic testing. Treatment involves the use of chelating agents, such as penicillamine, and zinc supplements to reduce copper absorption.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because Wilson's disease is not caused by a deficiency of the enzyme ceruloplasmin. Instead, the disease is caused by mutations in the ATP7B gene, which leads to impaired copper transport and accumulation.
* **Option B:** This option is incorrect because Wilson's disease is not typically associated with a high level of serum ceruloplasmin. In fact, patients with Wilson's disease often have low levels of serum ceruloplasmin due to the impaired copper incorporation into the protein.
* **Option C:** This option is incorrect because Wilson's disease is not primarily caused by an excess of iron in the body. While iron overload can occur in some patients, the primary issue in Wilson's disease is the accumulation of copper.
**Clinical Pearl / High-Yield Fact**
Wilson's disease is often referred to as "hepatolenticular degeneration" due to the involvement of the liver and basal ganglia. It is essential to consider Wilson's disease in the differential diagnosis of patients with liver disease, neurological disorders, or psychiatric problems, especially in individuals with a family history of the disease.
**Correct Answer:** Not Provided