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| Feier,F.H.; Miura,I.K.; Fonseca,E.A.; Porta,G.; Pugliese,R.; Porta,A.; Schwartz,I.V.D.; Margutti,A.V.B.; Camelo Jr,J.S.; Yamaguchi,S.N.; Taveira,A.T.; Candido,H.; Benavides,M.; Danesi,V.; Guimaraes,T.; Kondo,M.; Chapchap,P.; Neto,J. Seda. |
| 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, andDBT genes) showed that the MSUD... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Heterozygous donor; Metabolic disease; Branched-chain ketoacid dehydrogenase mutation; Leucine; Genotype. |
| Ano: 2014 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2014000600522 |
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