Stephen J. Schueler, M.D.

Overview Incidence Symptoms Evaluation Treatment Underlying Cause Genetics

Copper Storage Disease Underlying Cause

Normally, the liver removes excess copper from the body, and secretes it in bile. In a person with Wilson's disease, an abnormal gene does not allow the body to produce the protein that is responsible for transporting copper into the bile. Copper builds up in the liver, and then the copper starts to accumulate in the brain, eyes, kidneys, and joints.

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Last Updated: Jul 3, 2009 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Copper Storage Disease References
  1. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet. 2007 Feb 3;369(9559):397-408. [17276780]
  2. Durand F. Wilson's disease: an old disease keeps its old secrets. Eur J Gastroenterol Hepatol. 2007 Feb;19(2):97-9. [17272992]
  3. Pfeiffer RF. Wilson's Disease. Semin Neurol. 2007 Apr;27(2):123-32. [17390257]
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