Liver transplantation for propionic acidemia in children

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.