Medical Definition of Wilson disease

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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.

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Reviewed on 12/27/2018

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