A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure-Reference-Cited by-同舟云学术

A Novel Mutation in the ATP7B Gene: A Rare Manifestation of Wilson Disease With Liver Failure

Published:2023-02 Issue:2 Volume:10 Page:e00977
ISSN:2326-3253
Container-title:ACG Case Reports Journal
language:en
Short-container-title:ACG Case Rep J

Author:

Awan Rehmat Ullah¹^ORCID,Rashid Shazia²,Nabeel Ambreen¹,Gangwani Manesh Kumar³,Samant Hrishikesh⁴

Affiliation:

1. Department of Medicine, Ochsner Rush Health System, Meridian, MS

2. Department of Gastroenterology and Hepatology, Louisiana State University, Shreveport, LA

3. Department of Medicine, University of Toledo Medical Center, Toledo, OH

4. Department of Gastroenterology and Hepatology, Ochsner Health System, New Orleans, LA

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.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

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