Definition of Wilson disease

Wilson disease: An inherited disorder of copper metabolism that results in an abnormal accumulation of copper in the body. Although the accumulation of copper begins at birth, symptoms of the disorder do not appear until later in life, between the ages of 6 and 40. A diagnostic feature of the disease is a Kayser-Fleischer ring, a deep copper-
colored ring around the edge of the cornea that
represents copper deposits in the eye. The main clinical consequence of Wilson disease for most affected persons is liver disease. In other patients the first symptoms are nervous system or psychiatric symptoms or both and include tremor, rigidity, drooling, difficulty with speech, abrupt personality change, grossly inappropriate behavior and inexplicable deterioration of school or other work, neurosis, and psychosis. Without proper treatment, Wilson disease is always fatal, usually by age 30. If treatment is begun early enough, symptomatic recovery is usually complete, and a life of normal length and quality can be expected. Wilson disease is inherited in an autosomal recessive manner and is due to mutation of the ATP7B gene on chromosome 13. The ATP7B gene encodes ATPase, a
copper-transporting beta polypeptide.


Last Editorial Review: 3/19/2012

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