Genetic aetiologies of acute liver failure

Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However...

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Published inJournal of inherited metabolic disease Vol. 47; no. 4; pp. 582 - 597
Main Authors Hegarty, Robert, Thompson, Richard J.
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.07.2024
Blackwell Publishing Ltd
Subjects
acute liver failure
Child
Genomics
hepatology
Humans
Immunoregulation
Liver Failure, Acute - etiology
Liver Failure, Acute - genetics
Liver Transplantation
Metabolic disorders
Metabolism, Inborn Errors - diagnosis
Metabolism, Inborn Errors - genetics
mitochondria
hepatology
acute liver failure
mitochondria
liver transplantation
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Summary:Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications. Often these disorders are clinically indistinguishable and may even mimic disorders of immune regulation or red cell disorders. Rapid genomic sequencing for children with ALF is, therefore, a key component in the diagnostic work up today. This review focuses on the monogenic aetiologies of ALF.
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ISSN:0141-8955
1573-2665
1573-2665
DOI:10.1002/jimd.12733