Abstract

BACKGROUND: Maple syrup urine disease (MSUD) is a rare genetic deficiency of the branched-chain α-keto acid dehydrogenase (BCKAD) complex that breaks down amino acids, resulting in multi-organ failure. This report is of 5 pediatric cases of domino liver transplantation (DLT) from live donors with MSUD from a single transplant center in Beijing.

CASE REPORT: All MSUD donors were confirmed to have disease-causing mutations in BCKDHA (branched-chain keto acid dehydrogenase E1, α polypeptide) or BCKDHB (branched-chain keto acid dehydrogenase E1, β polypeptide) genes by peripheral blood whole-exon sequencing. Serum leucine and valine concentrations were significantly higher than normal values. Recipients ranged in age from 0.75 to 9 years old. Three patients underwent auxiliary liver transplantation, and the other children all underwent liver or partial liver transplantation. This case report was followed up for 25 to 79 months. The prognosis, growth, and development of patients were followed up. By the end of the last follow-up, all children had survived. All patients had normal serum leucine and valine concentrations after surgery. In case 1, portal vein stenosis post-operatively. In case 2, stenosis of hepatic artery and bile duct occurred. In case 5, hepatic artery and portal vein stenosis occurred, resulting in graft loss.  

CONCLUSIONS: The findings from our center support the findings from other pediatric liver transplant centers that liver transplantation using MSUD donors can have successful outcomes without the development of MSUD in the recipient.

Keywords: Maple Syrup Urine Disease, Liver Transplantation, Pediatrics