A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure. Issue 2 (9th February 2023)

• Record Type: Journal Article
• Authors: Awan, Rehmat Ullah; Rashid, Shazia; Nabeel, Ambreen; Gangwani, Manesh Kumar; Samant, Hrishikesh
• Is Part Of: ACG Case Reports Journal. Volume 10:Issue 2(2023)
• Page Start: e00977
• Publication Date: 2023-02-09
• Subjects: Wilson disease -- acute liver failure -- liver transplant -- ATP7B gene mutation
• DOI: 10.14309/crj.0000000000000977
• Languages: English
• ISSNs: 2326-3253

Abstract

ABSTRACT: 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.