A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure.
Rehmat Ullah AwanShazia RashidAmbreen NabeelManesh Kumar GangwaniHrishikesh SamantPublished in: ACG case reports journal (2023)
Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel ATP7B gene mutation, which has never been reported before.