https://www.ncbi.nlm.nih.gov/pubmed/31978012 Propionic acidemia

J Pediatr Gastroenterol Nutr. 2020 Feb;70(2):178-182. doi: 10.1097/MPG.0000000000002534.
Liver Transplantation for Propionic Acidemia: A Multicenter-linked Database Analysis.
Alexopoulos SP1, Matsuoka L1, Hafberg E2, Morgan T3, Thurm C4, Hall M4, Godown J5.

Abstract

OBJECTIVES:
Propionic acidemia (PA) is a rare inborn error of metabolism resulting from deficiency in the enzyme necessary for catabolism of branched-chain amino acids, some odd chain fatty acids and cholesterol. Despite optimal medical management, PA often leads to acute and progressive neurological injury. Reports on liver transplantation (LT) as a cellular therapy are limited and varied. The objective of this study was to examine the largest collection of patients who underwent LT for PA.

METHODS:
Examining the Scientific Registry of Transplant Recipients and the Pediatric Health Information System administrative billing databases, we performed a multicenter, retrospective analysis of LT over a 16-year period. During this period, 4849 pediatric LT were performed out of which 23 were done for PA at 10 different centers.

RESULTS:
The majority of recipients were 5 years of age or younger and had status 1b exception points at the time of transplant. The 1-, 3-, and 5-year graft survival for PA LT recipients was 84.6% and the 1-, 3, and 5-year patient survival was 89.5%. There was no significant difference in graft or patient survival between PA and non-PA LT recipients. Despite historical data to the contrary, we did not find an increased incidence of hepatic arterial thrombosis in patients undergoing LT for PA. Patients in the PA LT group, however, had a significantly higher postoperative rate of readmission compared with the non-PA LT group (90.5% vs 72.8%, P = 0.021).

CONCLUSION:
LT for children with PA is a viable treatment option with acceptable outcomes.