3 research outputs found
Wilson disease : from clinical to molecular
Wilson disease is an autosomal recessive copper storage disease. It is characterized by an inability of the liver to; excrete copper into bile and to incorporate copper into ceruloplasmin. This results in a gradual accumulation of copper in the liver and subsequently in the brain and other organs, If left untreated, patients will die, either due to liver failure, or from severe neurological disease. Therapy, however, both in the form of copper chelators and in the form of zinc, has been available for more than 30 years. Therefore the main task for physicians is to diagnose patients before tissue damage occurs.
Unfortunately, this is not always done properly, mostly because early symptoms are not recognized, but also because present diagnostic methods may fail.