Wilson's Disease is a rare genetic disorder that causes excessive accumulation of copper in the body. This occurs due to a mutation in the ATP7B gene, which is responsible for copper transport. As copper builds up, it can lead to serious damage in organs, particularly the liver and brain. Symptoms may include fatigue, abdominal pain, and neurological issues.
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.