Successful domino liver transplantation in maple syrup urine disease using a related living donor.

Abstract

Maple syrup urine disease (MSUD) is an autosomal recessive disease associated with high levels of branched-chain amino acids. Children with MSUD can present severe neurological damage, but liver transplantation (LT) allows the patient to resume a normal diet and avoid further neurological damage. The use of living related donors has been controversial because parents are obligatory heterozygotes. We report a case of a 2-year-old child with MSUD who underwent a living donor LT. The donor was the patient's mother, and his liver was then used as a domino graft. The postoperative course was uneventful in all three subjects. DNA analysis performed after the transplantation (sequencing of the coding regions of BCKDHA, BCKDHB, and DBT genes) showed that the MSUD patient was heterozygous for a pathogenic mutation in the BCKDHB gene. This mutation was not found in his mother, who is an obligatory carrier for MSUD according to the family history and, as expected, presented both normal clinical phenotype and levels of branched-chain amino acids. In conclusion, our data suggest that the use of a related donor in LT for MSUD was effective, and the liver of the MSUD patient was successfully used in domino transplantation. Routine donor genotyping may not be feasible, because the test is not widely available, and, most importantly, the disease is associated with both the presence of allelic and locus heterogeneity. Further studies with this population of patients are required to expand the use of related donors in MSUD.

• Authors: F H Feier, I K Miura, E A Fonseca, G Porta, R Pugliese, A Porta, I V D Schwartz, A V B Margutti, J S Camelo Jr, S N Yamaguchi, A T Taveira, H Candido, M Benavides, V Danesi, T Guimaraes, M Kondo, P Chapchap, J Seda Neto
• Journal: Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas (Braz J Med Biol Res) Vol. 47 Issue 6 Pg. 522-6 (Jun 2014) ISSN: 1414-431X [Electronic] Brazil
• PMID: 24770567 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Amino Acids, Branched-Chain

Topics

• Amino Acids, Branched-Chain (genetics)
• Child, Preschool
• Genotype
• Humans
• Liver Transplantation
• Living Donors
• Male
• Maple Syrup Urine Disease (surgery)
• Mutation (genetics)
• Phenotype
• Sequence Analysis, DNA
• Treatment Outcome