Wilson Disease

Wilson disease (WD) is a rare autosomal recessive disease of copper metabolism characterized by copper accumulation in hepatocytes and in other extra hepatic organs. Homozygous or compound heterozygous mutations in the ATP7B gene, which codes for an ATP-dependent copper export pump, are its cause. It should always be considered in a patient <40 years of age who presents with unexplained liver, neurological or neuropsychiatric disease. Presence of low serum ceruloplasmin levels, increased urine copper excretion and Kayser–Fleischer rings help in diagnosis of WD. Combined treatment with low copper diet, chelators, zinc and liver transplantation has proven lifesaving and even curative.