Wilson's disease causes

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:^[1]
- ATP7B gene
Impairment of copper transport mechanisms include the following:^[2]
- Imapired copper incorporation in ceruloplasmin
- Copper accumulation in the liver
- Extrahepatic copper accumulation

References

Overview