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Urea cycle disorders and indications for liver transplantation
Marta García Vega1, José D Andrade2, Ana Morais2
1Department of Pediatric Hepatology & Liver Transplant, Hospital Universitario La Paz & IdiPAZ, ERN Rare-Liver, ERN Trasplant Child, Madrid, Spain.
Frontiers in Pediatrics
|March 20, 2023
Summary
Urea cycle disorders (UCD) require timely intervention, with liver transplantation offering a life-saving option for severe neonatal cases. Continuous medical treatment may preserve neurodevelopment and reduce metabolic crises in some UCD patients.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Urea cycle disorders (UCD) are inherited metabolic diseases impacting nitrogen detoxification.
- Current treatments include diet, medications, and liver transplantation.
- Liver transplantation is a definitive treatment for severe UCD.
Purpose of the Study:
- To characterize UCD patients and evaluate liver transplantation outcomes.
- To describe indications for liver transplantation in UCD.
- To analyze the impact of treatment strategies on neurodevelopment and metabolic control.
Main Methods:
- Retrospective study of 33 children with UCD (2000-2021).
- Data collected on diagnosis, clinical presentation, hyperammonemia, and treatment.
- Analysis of outcomes including mortality, transplantation, and neurodevelopmental status.
Main Results:
- Ornithine transcarbamylase deficiency was most common (n=20).
- Neonatal UCD forms were severe, with high hyperammonemia and mortality (6/14 deaths).
- 16/27 survivors received liver transplantation with 100% survival, improved protein tolerance, but 69% had neurologic sequelae without progression.
Conclusions:
- Liver transplantation is highly effective for severe UCD, improving survival and metabolic control.
- Continuous medical management may be beneficial for neurodevelopment and reducing crises in select UCD patients.
- Early diagnosis and intervention are crucial for managing UCD and optimizing patient outcomes.
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