Wilson Disease

Wilson disease is a rare genetic disorder affecting copper metabolism, caused by mutations in the ATP7B gene that encodes a copper-transporting protein. In normal physiology, excess copper is excreted through bile, but in Wilson disease, copper accumulates progressively in the liver, central nervous system, and other organs, causing severe damage if untreated. The disease can present with acute liver failure, progressive neurological disease (including tremor, dystonia, and parkinsonism), or psychiatric manifestations. Many patients also develop distinctive greenish-brown rings on the cornea, called Kayser-Fleischer rings, which are diagnostic. Early diagnosis and treatment are critical; patients treated before symptom onset or in early stages can have near-normal lifespans and quality of life. Treatment involves lifelong copper chelation therapy or zinc supplementation to reduce copper levels and prevent further accumulation.