2014
DOI: 10.1590/1414-431x20143830
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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 mothe… Show more

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Cited by 46 publications
(45 citation statements)
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“…Thus, it appears that the mother has normal protein tolerance rather than an unusual dominantnegative mutation or any other factor leading to significant impairment of branched-chain amino acid metabolism, in spite of her heterozygous state. leucine levels were normal by the second postoperative day without any dietary restriction and neither the donor nor the recipient experienced metabolic decompensations after the transplant, showing the utility of this management (Feier et al 2014). However, the non-symptomatic metabolic crisis described by Mazariegos and the events described in our patient indicate that the capacity of a grafted liver to oxidize BCAA can be overwhelmed by catabolic stress and dehydration and that the protection afforded by the liver transplant may not be complete in some cases.…”
Section: Discussionmentioning
confidence: 57%
“…Thus, it appears that the mother has normal protein tolerance rather than an unusual dominantnegative mutation or any other factor leading to significant impairment of branched-chain amino acid metabolism, in spite of her heterozygous state. leucine levels were normal by the second postoperative day without any dietary restriction and neither the donor nor the recipient experienced metabolic decompensations after the transplant, showing the utility of this management (Feier et al 2014). However, the non-symptomatic metabolic crisis described by Mazariegos and the events described in our patient indicate that the capacity of a grafted liver to oxidize BCAA can be overwhelmed by catabolic stress and dehydration and that the protection afforded by the liver transplant may not be complete in some cases.…”
Section: Discussionmentioning
confidence: 57%
“…Most patients with MSUD who have undergone LT have undergone DDLT . Our patient is only the fourth to undergo LDLT from a heterozygous parent . Recipients of heterozygous grafts may, however, experience recurrence of MSUD.…”
Section: Discussionmentioning
confidence: 83%
“…6 Even so, the liver is the source of only 9% of the enzymatic complex brain chained alpha-ketoacid dehydrogenase, which is involved in the patho genesis of the disease; therefore using a smaller graft from a living donor is also safe for the patients. 7 In conclusion, we present the first case of a domino liver transplant performed in Saudi Arabia. A liver transplant is an effective treatment for patients with MSUD.…”
mentioning
confidence: 86%