Wilson disease.
Wilson disease is a recessively inherited disorder of copper transport. Clinical features are highly variable, with any combination of neurological, hepatic or psychiatric illness. The age of onset varies from 3 to 50 years of age. Diagnosis is challenging because no specific combination of clinical or biochemical features is necessarily definitive. The genetic defect is due to a variety of abnormalities in a copper-transporting membrane ATPase. Most of the more than 80 mutations are present at a low frequency, and mutations differ between ethnic groups. At least two mutations are sufficiently common to aid in rapid diagnosis, in European and Asian populations respectively. Molecular analysis can provide a definitive diagnosis for asymptomatic sibs. Treatment, using chelating agents or zinc, is most effective when started before permanent tissue damage occurs.
Roberts
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EA
Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada.
Cox
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DW
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D006527:Hepatolenticular Degeneration / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation