Clinics in Liver Disease - Volume 26: Wilson Disease in Children

Wilson disease is an autosomal recessive inherited disease with protean manifestations primarily in the liver, neurologic system and kidney where a mutation in the ATP7B gene causes a defect in copper transportation resulting in excessive copper deposition. The disease is seen both in childhood where hepatic manifestations prevail ranging from “silent” disease to liver failure and in adults where neurologic presentation is more frequent.