Mutation of the ATP7B gene leads to toxic accumulation of copper in the liver, which produces reactive oxygen species leading to liver damage. Chronic inflammation of the liver can result in cirrhosis.
Toxic accumulation of copper in the liver produces reactive oxygen species leading to liver damage. Chronic inflammation of the liver can predispose individuals to develop hepatocellular carcinoma.
In the brain, the toxic injury primarily affects the basal ganglia, especially the putamen. Involvement of the brain can cause neuropsychiatric manifestations including a Parkinson disease like syndrome.
Toxic accumulation of copper in the brain can lead to early onset dementia in patients with Wilson disease.
Dyskinesia is a movement disorder characterized by the presence of involuntary movements and diminished voluntary movements and is a common neuropsychiatric manifestation of Wilson disease.
Asterixis refers to a jerking tremor of the hand that is apparent when the wrist is extended, commonly called a flapping tremor. It can be a sign of hepatic encephalopathy and a feature of Wilsons disease.
Almost all patients with neurologic involvement develop characteristic eye lesions in the cornea called Kayser-Fleischer rings which are brownish green deposits of copper in Descemet membrane of the cornea.
Kayser Fleischer rings can be detected by slit lamp examination, which consists of a high intensity light source focused to shine a thin sheet of light into the eye.
Production of reactive oxygen species of excess copper in the blood can lead to hemolytic anemia.
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