Wilson's disease is characterized by an accumulation of what substance in the circulation?

Wilson's disease is a genetic disorder that leads to an abnormal accumulation of copper in the body. This condition is caused by a mutation in the ATP7B gene, which plays a key role in copper transport and metabolism. In healthy individuals, copper is normally excreted through the bile, but in Wilson's disease, the body is unable to eliminate excess copper effectively. As a result, copper builds up in various tissues, particularly in the liver, brain, and corneas, leading to various symptoms and complications.

The presence of excess copper can cause hepatocellular damage, neurological manifestations, and psychiatric symptoms. The diagnosis of Wilson's disease typically involves measuring serum ceruloplasmin levels, liver function tests, and sometimes a 24-hour urine copper excretion test, which would indicate elevated levels of copper in the urine.

Understanding Wilson's disease highlights the importance of copper homeostasis in the body and the severe consequences that can arise from its dysregulation. Other metals listed, such as sodium, iron, and calcium, do not have the same direct relationship with Wilson's disease and are not the substances that accumulate in this condition.