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Background <p>Acute liver failure (ALF) in children is characterized by acute liver dysfunction with coagulopathy and encephalopathy in previously healthy individuals. In recent years, novel genetic causes have been identified, comprising a&#xa0;heterogeneous group of congenital disorders that manifest particularly in the first years of life. The clinical courses are often rapidly progressive and range from transient episodes to irreversible organ failure.</p> Objective <p>The aim of this study is to systematically present important genetic causes of ALF in childhood.</p> Materials and methods <p>Current prospective and retrospective cohort studies, registry data, and relevant publications on individual diseases were evaluated.</p> Results <p>Genetic causes represent the largest etiological group (approximately 20% of cases) for pediatric ALF. Early onset or recurrent courses, as well as cases with neurological manifestations, are particularly often genetically determined. The use of modern sequencing methods enables a&#xa0;genetic diagnosis in up to 40% of biochemically unsolved cases. In addition to classic entities such as Wilson’s disease, galactosemia, or urea cycle defects with a&#xa0;clear biochemical phenotype, new clinical pictures without singular biomarkers are becoming increasingly prominent. These include mitochondrial diseases, disorders of vesicular intracellular trafficking, protein translation, and immune regulation. Early diagnosis significantly influences treatment decisions, including the decision regarding a&#xa0;possible liver transplant.</p> Conclusion <p>Genetic causes represent the largest etiological group of ALF in children. Rapid genetic and metabolic testing should be performed in all children with ALV in order to be able to specifically guide treatment and improve the prognosis.</p>

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Genetisch determiniertes akutes Leberversagen

  • 期刊论文

  • 发表日期：

    2026年2月13日

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  • Dominic Lenz

摘要

Background

Acute liver failure (ALF) in children is characterized by acute liver dysfunction with coagulopathy and encephalopathy in previously healthy individuals. In recent years, novel genetic causes have been identified, comprising a heterogeneous group of congenital disorders that manifest particularly in the first years of life. The clinical courses are often rapidly progressive and range from transient episodes to irreversible organ failure.

Objective

The aim of this study is to systematically present important genetic causes of ALF in childhood.

Materials and methods

Current prospective and retrospective cohort studies, registry data, and relevant publications on individual diseases were evaluated.

Results

Genetic causes represent the largest etiological group (approximately 20% of cases) for pediatric ALF. Early onset or recurrent courses, as well as cases with neurological manifestations, are particularly often genetically determined. The use of modern sequencing methods enables a genetic diagnosis in up to 40% of biochemically unsolved cases. In addition to classic entities such as Wilson’s disease, galactosemia, or urea cycle defects with a clear biochemical phenotype, new clinical pictures without singular biomarkers are becoming increasingly prominent. These include mitochondrial diseases, disorders of vesicular intracellular trafficking, protein translation, and immune regulation. Early diagnosis significantly influences treatment decisions, including the decision regarding a possible liver transplant.

Conclusion

Genetic causes represent the largest etiological group of ALF in children. Rapid genetic and metabolic testing should be performed in all children with ALV in order to be able to specifically guide treatment and improve the prognosis.