Wilsons disease, called also hepatolenticular degeneration, is a genetic neurodegenerative defect in the metabolism of copper, characterized by a broad clinical spectrum, thus requiring high. Liverrelated symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin and itchiness. Files are available under licenses specified on their description page. Symptoms are typically related to the brain and liver. Palabras clave degeneracion hepatolenticular adolescente ceruloplasmina. It is caused by defects in the atp7b gene encoding coppertransporting atpase 2 ec 3. Wilson s disease is a genetic disorder in which excess copper builds up in the body. Esta enfermedad fue descrita por primera vez en 1912 por kinnear wilson 1. Wilson, nacio en nueva jersey usa en 1878 y murio en 1937. Wilsons disease is a genetic disorder in which excess copper builds up in the body. Sindrome hepatocerebral cronico secundario a cirrosis por.
Paper chromatographic analysis of amino acid excretion in wilson s disease. The effect of bal 2,3dimercaptopropanol on hepatolenticular degeneration wilson s disease. Progressive hepatolenticular degeneration, or wilsons disease, is a genetic disorder of copper metabolism. Progressive hepatolenticular degeneration, or wilson s disease, is a genetic disorder of copper metabolism. All structured data from the file and property namespaces is available under the creative commons cc0 license. A rare autosomal recessive disease characterized by the deposition of copper in the brain.
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