MedPix Week 666 Wilson's Disease from Kristin Kinsman, Jeffrey Pollock, MD Ryan Berecky, MD
Channel: James Smirniotopoulos
Date: 2013-03-08

Wilson's Disease (Hepato-Lenticular Degeneration) is an autosomal recessive inborn error of copper metabolism. The WD gene (chromosome 13) codes for ATPase7B - which transports copper in liiver hepatocytes - allowing for biliary excretion.  Patient's usually present in the first decade with liver disease or later with neurologic dysfunction.  Elevated urinary copper and decreased serum ceruloplasmin are typical. Free CME @ MedPix http://rad.usuhs.edu/medpix/cow_image.html?mode=cow_viewer&imid=58715&pt_id=14268&quiz=yes&#pic