Wilson Disease

Wilson disease is an autosomal recessive disorder of copper metabolism caused by ATP7B gene mutations. Clinical features include hepatic dysfunction, movement disorders, psychiatric symptoms, and Kayser–Fleischer rings. Pathophysiology involves toxic copper accumulation in liver, basal ganglia, and cornea. Diagnosis relies on serum ceruloplasmin, 24-hour urinary copper, genetic testing, and clinical features. Management includes chelation therapy (penicillamine, trientine), zinc therapy, and liver transplantation when indicated; prognosis is favorable with early diagnosis and treatment.