This disease is inherited in an autosomal recessive fashion.
A mutation in the ATP7B gene leads to a decrease in copper transport into bile and impairs its incorporation to ceruloplasmin. It also decreases ceruloplasmin secretion into the blood causing accumulation of copper in the liver and decreased ceruloplasmin levels.
ATP7B gene is located on chromosome 13.
A mutation in the ATP7B gene leads to a decrease in copper transport into bile and impairs its incorporation to ceruloplasmin, leading to decreased ceruloplasmin levels in the blood.
Normally, copper is absorbed in the small intestine and transported to the liver where it is incorporated into enzymes and bound to apoceruloplasmin to form ceruloplasmin. Ceruloplasmin can be secreted into the blood while excess copper is transported into bile to be excreted. A mutation in the ATP7B gene leads to a decrease in copper transport into bile and inadequate copper excretion.
Mutation of the ATP7B gene leads to toxic accumulation of copper in the liver, which produces reactive oxygen species leading to liver damage. The hepatic changes are variable and can range from fatty change to cirrhosis and massive liver necrosis.
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.
Non ceruloplasmin bound copper can enter the systemic circulation and can cause pathologic changes in the kidney.
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 Descement's membrane of the cornea.
Non ceruloplasmin bound copper can enter the systemic circulation and can cause pathologic changes in the joints causing severe debilitating joint pain.
Penicillamine is a copper chelator that can be used in the treatment of Wilson disease.
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