What is Wilson's disease?

Wilson's disease is a genetic disorder that leads to excessive accumulation of copper in the body, primarily affecting the liver and brain. It is caused by a deficiency in the hepatic copper-transporting ATPase, which is responsible for incorporating copper into ceruloplasmin and excreting excess copper into bile. The resulting ceruloplasmin deficiency is a key feature of Wilson's disease, and the inability to properly excrete copper can lead to hepatic failure as the liver becomes overwhelmed by the copper buildup.

Hepatic failure can manifest in various ways, including liver dysfunction, cirrhosis, and even acute liver failure in severe cases. Patients may also experience neurological symptoms and psychiatric disorders as copper accumulates in the brain. The identification of Wilson's disease typically involves measuring serum ceruloplasmin levels, liver function tests, and copper levels in the liver biopsy.

Other options do not accurately describe Wilson's disease. For instance, hemoglobin deficiencies relate to conditions like anemia, while diabetes associated with kidney failure refers to diabetic nephropathy. Additionally, arthritis from uric acid buildup pertains to gout rather than Wilson's disease. Thus, understanding the specific biochemical pathways and consequences related to ceruloplasmin and copper metabolism is crucial for recognizing the nature of