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Living-related liver transplantation for neonatal-onset propionic acidemia
T Yorifuji1, J Muroi, A Uematsu
1Department of Pediatrics, Kyoto University Hospital, Shogoin Sakyo, Kyoto, Japan.
Insights
Living-related liver transplantation successfully treated neonatal-onset propionic acidemia. The procedure corrected hyperammonemia and improved growth and development, despite minimal changes in propionyl CoA metabolites.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Transplantation Surgery
Background:
- Propionic acidemia is a rare inherited metabolic disorder.
- Neonatal-onset propionic acidemia presents a severe clinical challenge.
- Current treatments have limitations in managing metabolic decompensation.
Observation:
- A child with neonatal-onset propionic acidemia underwent living-related liver transplantation.
- Post-transplantation monitoring revealed persistent, albeit minimal, circulating propionyl CoA metabolites.
Findings:
- The liver transplant effectively corrected hyperammonemia.
- No further episodes of metabolic decompensation occurred post-transplantation.
- Patients experienced improved natural protein tolerance, corrected anemia, and enhanced growth and cognitive development.
Implications:
- Living-related liver transplantation is a viable therapeutic option for severe neonatal-onset propionic acidemia.
- The procedure offers significant long-term benefits in patient outcomes and quality of life.
- Further research may explore the mechanisms underlying metabolic improvement despite metabolite persistence.
Abstract:
We report a child with neonatal-onset propionic acidemia treated with living-related liver transplantation. Despite minimal improvement in the levels of circulating propionyl CoA metabolites, hyperammonemia was corrected, and no episode of metabolic decompensation was experienced after the transplantation was performed. Natural protein intake could be increased from 0.5 g/kg per day to 2 g/kg per day. Anemia was corrected, and the growth rate and mental development improved significantly.
