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Liver transplantation for propionic acidemia in children
Roshni Vara1, Charles Turner, Helen Mundy
1Paediatric Liver, Gastrointestinal, and Nutrition Centre, King's College Hospital, London, United Kingdom. roshni.vara@gstt.nhs.uk
Insights
Liver transplantation (LT) offers a promising solution for children with propionic acidemia (PA), a rare metabolic disorder. This procedure significantly reduces metabolic decompensations and enhances quality of life, though metabolic sequelae risks remain.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Surgery
Background:
- Propionic acidemia (PA) is an inherited metabolic disorder affecting branched-chain amino acid metabolism.
- Current medical management for PA has limitations, with disappointing long-term outcomes.
- Liver transplantation (LT) is explored as a therapeutic option to mitigate metabolic crises and improve patient quality of life.
Observation:
- A retrospective review identified five pediatric patients with PA who underwent LT between 1987 and 2008.
- Patients presented with metabolic acidosis and hyperammonemia, with some requiring intensive care.
- Indications for LT included frequent metabolic decompensations and prior sibling mortality.
Findings:
- All patients achieved normal graft function post-LT, with a median follow-up of 7.3 years.
- Post-transplant, patients experienced a good quality of life on a protein-unrestricted diet without further metabolic decompensations.
- One patient experienced a metabolic stroke one year after LT, indicating a residual risk of neurological sequelae.
Implications:
- LT plays a crucial role in managing propionic acidemia, significantly reducing metabolic decompensation risks.
- Liver transplantation improves the quality of life for children with PA.
- While effective, LT does not entirely eliminate the risk of developing metabolic sequelae.
Abstract:
Propionic acidemia (PA) is a rare inherited disorder of branched chain amino acid metabolism; despite improvements in conventional medical management, the long-term outcome remains disappointing. Liver transplantation (LT) has been proposed to minimize the risk of further metabolic decompensations and to improve the quality of life. We performed a retrospective review of all children with PA who underwent LT between 1987 and 2008. Five children were identified with a median age of 1.2 years (range = 0.7-4.1 years) at referral. Four of the children presented clinically at 3 weeks of age or less, and 1 child was diagnosed prenatally. All had metabolic acidosis and hyperammonemia. Two had seizures and required intensive care; this care included inotropic support and continuous venovenous hemofiltration in 1 child. The children were considered for elective LT for the following reasons: frequent metabolic decompensations (2), previous sibling death (2), and elective management (1). One child underwent auxiliary LT, and 4 children received orthotopic grafts (1 living related graft). The median age at LT was 1.5 years (range = 0.8-7.0 years). There was 1 retransplant 3 months after LT due to hepatic artery thrombosis. One year after LT, 1 patient suffered a metabolic stroke with minimal residual neurology. After a median follow-up of 7.3 years (range = 2.2-15.0 years), all the children had normal graft function and a good quality of life with a protein-unrestricted diet and no further metabolic decompensations. In conclusion, LT has a role in the management of PA: it reduces the risk of metabolic decompensation and improves the quality of life. The potential for the development of metabolic sequelae is not completely eliminated.
