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

Ned Tijdschr Geneeskd. 2003 Mar 29;147(13):603-5.
[Article in Dutch]

Abstract

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adenosine Triphosphatases / metabolism*
  • Brain / metabolism
  • Copper / metabolism*
  • Hepatolenticular Degeneration / genetics*
  • Hepatolenticular Degeneration / metabolism
  • Humans
  • Liver / enzymology
  • Liver / metabolism
  • Mutation

Substances

  • Copper
  • Adenosine Triphosphatases