Living-donor liver transplantation for propionic acidemia

Area of Science:

• Biochemistry
• Genetics
• Pediatric Medicine

Background:

• Propionic acidemia is a rare, autosomal recessive metabolic disorder caused by a genetic defect in propionyl-CoA carboxylase (PCC), impairing branched-chain amino acid catabolism.
• Severe forms lead to life-threatening metabolic acidosis, hyperammonemia, and cardiomyopathy, often resulting in neurological damage and mortality, despite conventional treatments like protein restriction and L-carnitine supplementation.

Observation:

• This retrospective study reviewed three pediatric patients with neonatal-onset propionic acidemia who underwent living donor liver transplantation (LDLT).
• Between November 2005 and December 2010, LDLT was performed on 148 children, with a 90.5% survival rate at the center.

Findings:

• All three propionic acidemia patients who received LDLT experienced resolution of metabolic derangements and improved quality of life, alongside continued protein restriction and medication.
• While clinical outcomes were positive, urine methylcitrate and serum propionylcarnitine levels did not show significant reductions post-transplantation.

Implications:

• Liver transplantation (LT) can mitigate progressive cardiac and neurological disabilities associated with poor metabolic control in propionic acidemia.
• Further research is necessary to ascertain the long-term efficacy and suitability of LT as a treatment modality for propionic acidemia.