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Outcome of Liver Transplantation for Neonatal-onset Citrullinemia Type I
1Department of Liver Surgery, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Insights
Liver transplantation (LT) effectively treats neonatal-onset citrullinemia type I, restoring metabolism and improving quality of life. Early LT is crucial for patients with hyperammonemic insults to prevent neurological and developmental deficits.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Metabolic Disorders
Background:
- Neonatal-onset citrullinemia type I is a rare genetic disorder affecting urea cycle metabolism.
- Patients often experience severe hyperammonemia, leading to neurological damage and developmental delays.
- Liver transplantation (LT) is a potential curative treatment option.
Purpose of the Study:
- To evaluate the outcomes of liver transplantation (LT) in patients with neonatal-onset citrullinemia type I.
- To assess the impact of LT on neurological deficits and developmental retardation.
- To determine the optimal timing for LT in affected patients.
Main Methods:
- A retrospective analysis of 5 children diagnosed with citrullinemia type I who underwent LT between October 2006 and October 2019.
- Patients received either living donor LT or orthotopic LT.
- Follow-up assessments focused on metabolic status, neurological function, and developmental progress.
Main Results:
- All 5 recipients recovered successfully post-LT, with a median follow-up of 32 months.
- LT normalized citrulline metabolism and liver function, eliminating hyperammonemic episodes.
- Patients showed significant improvements in psychomotor ability, catch-up growth, cognitive function, and halted neurological deterioration.
- Seizure episodes were controlled, enhancing intellectual development and quality of life.
Conclusions:
- Liver transplantation is an effective treatment for neonatal-onset citrullinemia type I, reversing metabolic decompensation.
- Early LT is recommended for patients with severe hyperammonemic insults to prevent irreversible neurological and developmental deficits.
- LT significantly improves the quality of life for affected children.
Background:
We evaluated the outcome of liver transplantation (LT) in neonatal-onset citrullinemia type I patients, especially its impact on neurological deficits and developmental retardation.
Methods:
From October 2006 to October 2019, 5 of the 2003 children who received LT at Ren Ji Hospital had been diagnosed with citrullinemia type I. The primary indication for transplantation was repeated metabolic compensation and developmental retardation in 4 patients and prophylactic transplantation in the other. Among them, 3 patients received living donor LT and 2 received orthotopic LT.
Results:
All recipients had successfully recovered within the median follow-up period of 32 months (range, 6-54 mo). Transplantation restored citrulline metabolism and liver function. Plasma ammonia and citrulline concentration decreased to normal levels with no further hyperammonemic episodes being reported, even after normal diet intake began. Meanwhile, uracil-2 and orotic acid were not detected in urinary excretion. Strikingly, patients suffered developmental retardation before LT showed improved psychomotor ability and significant catch-up growth during the follow-up period. Cognitive ability, including language skills and academic performance, also greatly improved. Three patients had sustained brain injuries and exhibited severe neurological deficits before transplantation, especially repeated generalized tonic-clonic seizures. LT halted neurological deterioration and controlled seizure episodes, which further facilitated the intellectual development and improvement of life quality.
Conclusions:
LT is an effective treatment for neonatal-onset citrullinemia type I patients, which reverses metabolism decompensation and improves quality of life. For patients who have suffered severe hyperammonemic insults, LT should be conducted at an early age to avoid further neurological or developmental deficits.
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