Wilson's disease
Wilson's disease is a genetic disorder that causes excessive accumulation of copper in the body, particularly in the liver and brain. This buildup can lead to serious health issues, including liver damage, neurological problems, and psychiatric symptoms. The condition is caused by a mutation in the ATP7B gene, which is responsible for copper transport.
Diagnosis typically involves blood tests, urine tests, and liver biopsies to measure copper levels. Treatment often includes medications like penicillamine or trientine to help remove excess copper, along with dietary changes to limit copper intake. Early detection and management are crucial for preventing severe complications.