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

Rehmat Ullah AwanShazia RashidAmbreen NabeelManesh Kumar GangwaniHrishikesh Samant
Published 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.
Keyphrases
  • liver failure
  • hepatitis b virus
  • genome wide
  • white matter
  • multiple sclerosis
  • resting state
  • transcription factor
  • cerebral ischemia
  • drug induced
  • mechanical ventilation
  • genome wide identification