From gene to disease; Wilson disease: copper storage due to mutations in ATP7B

Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as...

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Bibliographic Details
Published inNederlands tijdschrift voor geneeskunde Vol. 147; no. 13; p. 603
Main Authors Stapelbroek, J M, Ploos van Amstel, J K, van Hattum, J, van den Berg, L H, Klomp, L W J, Houwen, R H J
Format Journal Article
LanguageDutch
Published Netherlands 29.03.2003
Subjects
Adenosine Triphosphatases - genetics
Adenosine Triphosphatases - metabolism
Brain - metabolism
Copper - metabolism
Hepatolenticular Degeneration - genetics
Hepatolenticular Degeneration - metabolism
Humans
Liver - enzymology
Liver - metabolism
Mutation
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Summary:Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.
ISSN:0028-2162