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Related Experiment Video

Updated: Jan 22, 2026

A Mouse Model of Chronic Liver Fibrosis for the Study of Biliary Atresia
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Chronic liver involvement in urea cycle disorders.

Giusy Ranucci1, Miriam Rigoldi2, Giovanna Cotugno1

  • 1Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Journal of Inherited Metabolic Disease
|July 2, 2019
PubMed
Summary

Chronic liver disease is common in urea cycle disorders (UCDs), affecting over 60% of patients. Argininosuccinate lyase deficiency (ASLD) and HHH syndrome show distinct liver damage patterns.

Keywords:
argininosuccinate lyase deficiencychronic liver diseasehyperornithinemia-hyperammonemia-homocitrullinemia syndromeincomplete septal cirrhosislean nonalcoholic fatty liver diseasemetabolic syndromeurea cycle disorders

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Area of Science:

  • Hepatology
  • Metabolic Disorders
  • Genetics

Background:

  • Increased survival in urea cycle disorders (UCDs) necessitates understanding long-term complications.
  • Chronic liver disease is anecdotally reported in UCDs, but large-scale analyses are lacking.
  • The mechanisms underlying liver damage in UCDs remain poorly understood.

Purpose of the Study:

  • To analyze the prevalence and characteristics of chronic liver involvement in a large cohort of UCD patients.
  • To identify specific UCDs with a higher frequency of liver disease.
  • To investigate associated metabolic abnormalities and distinct phenotypic presentations of liver dysfunction.

Main Methods:

  • Retrospective analysis of 102 UCD patients from two Italian reference centers.
  • Evaluation of chronic liver involvement through clinical data and ultrasound examinations.
  • Comparison of liver involvement frequency and characteristics across different UCD subtypes.

Main Results:

  • Over 60% of UCD patients exhibited chronic liver involvement.
  • Argininosuccinate lyase deficiency (ASLD) and hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome showed significantly higher frequencies of liver disease.
  • ASLD patients presented with elevated transaminases and gamma-GT, while HHH syndrome showed elevated alpha-fetoprotein and more pronounced ultrasound abnormalities.

Conclusions:

  • Chronic liver disease is a frequent complication in UCDs, with varying prevalence and phenotypes among different UCD subtypes.
  • ASLD and HHH syndrome represent distinct patterns of liver involvement in UCDs.
  • Further research is required to elucidate the specific metabolic pathways contributing to liver dysfunction in UCDs.