Current disease treatment includes oral bile acid replacement therapy and treatment ... The AAV vector gene therapy targets the ATP7B gene, responsible for causing the condition.

Central regulators of cellular copper metabolism are the copper-transporting P-type ATPases ATP7A and ATP7B. Mutations in ATP7A or ATP7B disrupt the homeostatic copper balance, resulting in copper ...

Direct genetic testing for ATP7B mutations are increasingly available to confirm the clinical diagnosis of Wilson's disease, and results from biochemical and genetic prevalence studies suggest that ...