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Sudden Acute Liver Failure in Citrullinemia Type 1: An Argument for Earlier Liver Transplantation?

Jessica A Eldredge1, Anil Dhawan2, Maesha Deheragoda3

  • 1Paediatric Liver GI and Nutrition Centre, King's College Hospital, London, UK.

The Journal of Pediatrics
|June 3, 2026
PubMed

Insights

Recurrent acute liver failure (ALF) episodes can occur in children with citrullinemia type 1 (CTLN1), even with medical treatment. This highlights the need for early liver transplant consideration in specific cases.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Hepatology

Background:

  • Citrullinemia type 1 (CTLN1) is a rare genetic urea cycle disorder.
  • Acute liver failure (ALF) is a known presentation of CTLN1.
  • Recurrent hepatic decompensation in CTLN1 during treatment is not well-documented.

Purpose of the Study:

  • To report on recurrent episodes of acute liver failure in children with citrullinemia type 1.
  • To expand the understanding of the clinical phenotype of CTLN1.
  • To evaluate the role of early liver transplantation in managing severe CTLN1 cases.

Main Methods:

  • Case series describing five children diagnosed with citrullinemia type 1.
  • Review of clinical presentations and treatment courses.
  • Analysis of outcomes, including liver transplantation.

Main Results:

  • Five children experienced recurrent episodes of acute liver failure.
  • One child required an emergency liver transplantation due to severe disease.
  • The findings suggest a broader spectrum of hepatic involvement in CTLN1.

Conclusions:

  • Recurrent hepatic decompensation is a significant feature of citrullinemia type 1.
  • Early liver transplant referral should be considered for selected pediatric patients with CTLN1.
  • This expands the known phenotype of citrullinemia type 1.

Keywords:
ALFacute liver failurecitrullinemia type 1liver transplantationmetabolic decompensationpaediatric hepatology

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