Wilson's disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Wilson's disease is caused by ATP7B gene mutation and impairement of copper transportation.

Causes

• Wilson's disease is caused mainly by mutations in the genes responsible for copper transport.
• Genetic mutations:
  • ATP7B gene
• Impairment of copper transport mechanisms include the following:
  • Imapired copper incorporation in ceruloplasmin production
  • Copper accumulation in the liver
  • Extrahepatic copper accumulation