What is Wilson disease characterized?

Updated: Feb 14, 2019
  • Author: Richard K Gilroy, MBBS, FRACP; Chief Editor: Praveen K Roy, MD, AGAF  more...
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Answer

Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The condition is characterized by excessive deposition of copper in the liver, brain, and other tissues. The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. (See Etiology.) The available evidence suggests that substantial increases in copper concentrations in the central nervous system persist for a long time during chelating treatment and that local accumulation of iron in certain brain nuclei may occur during the course of the disease. [1]


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