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

Feier, Flávia Heinz; Miura, Irene Kazue; Fonseca, Eduardo A.; Porta, Gilda; Pugliese, Renata; Porta, Adriana; Schwartz, Ida Vanessa Döederlein; Margutti, Ana Vitoria Barban; Camelo, José Simon; Yamaguchi, Seiji; Taveira, Adriana; Cândido, Helry L.; Benavides, Marcel R.; Danesi, Vera B.; Guimarães, Teresa; Kondo, Mário; Chapchap, Paulo; Neto, João Seda

doi:10.1590/1414-431x20143830

Cited by 46 publications

(45 citation statements)

References 17 publications

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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%

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor

Alshamsi¹,

Baker²,

Dhawan³

et al. 2016

JIMD Reports

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Maple syrup urine disease (MSUD) is an autosomal recessive disorder associated with impaired metabolism of branched-chain amino acids (BCAA) leucine, isoleucine, and valine. Children with MSUD suffer from bouts of metabolic decompensation, which may lead to neurological damage. Liver transplantation from unrelated deceased donors has been considered curative. The natural history of the disease following transplantation using a haploidentical (obligate heterozygous) living donor is still unclear, although previously described as favorable. We describe acute metabolic crises in a 20-month-old child with MSUD type II. The first well-documented one occurred 5 months after a successful liver transplantation from his mother. The patient developed encephalopathy with progressive lethargy and seizures after an episode of gastroenteritis with dehydration. Plasma levels of leucine, isoleucine, and valine were markedly elevated and alloisoleucine was detected. He promptly responded to dialysis and BCAA-free dietetic management and subsequently could resume a normal diet. Since then he has had another symptomatic metabolic crisis with seizures. This case strongly suggests that some recipients of liver transplantation from a haploidentical parent possess limited capacity to oxidize BCAA at the time of catabolic stress and dehydration and remain at risk of severe metabolic crises. Thus, careful metabolic monitoring and prompt treatment post liver transplantation are still required to avoid neurological sequelae of MSUD, particularly if the donor is heterozygous for MSUD. Abbreviations BCAABranched-chain amino acids BCKDH Branched-chain keto acid dehydrogenase complex MSUD Maple syrup urine disease

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Section: Discussionmentioning

confidence: 57%

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor

Alshamsi¹,

Baker²,

Dhawan³

et al. 2016

JIMD Reports

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“…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%

Successful living donor liver transplantation for classical maple syrup urine disease

Yasui

Suzuki

Hara

et al. 2016

Pediatric Transplantation

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MSUD is an autosomal recessive condition characterized by a deficiency in the enzyme, BCKDH, which catalyzes the breakdown of BCAAs. If left untreated, MSUD can result in mental retardation, central nervous system disorders, and even death. Most patients with MSUD are treated with a restricted protein diet and milk from which BCAAs have been removed. LT has been shown effective in patients with MSUD. This report describes the case of a 15-month-old boy who received a liver graft from his mother. Transplantation was successful, and the patient was then able to ingest a normal diet. Despite episodes of acute rejection, chylous ascites, and high fever (40°C), he has shown no evidence of MSUD recurrence. These findings indicate that patients with MSUD can be successfully treated by LDLT, even when the donor is a heterozygous carrier of a mutated BCKDH gene.

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“…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%

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2016

Exp Clin Transplant

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Dear Editor:Maple syrup urine disease (MSUD), an inherited autosomal recessive disorder of branched-chain amino acid metabolism, is characterized by potentially life-threatening episodes of ketoacidosis. 1,2 Leucine, isoleucine, and valine also are neurotoxic, and longterm high levels can produce different grades of neurologic impairment if the disease is not treated. 3 Patients would need to follow a special diet with exclusion of branched amino acids their entire life. The failure to control diet leads to the development of deficits, and the urine's particular aspect, which leads to the name of the disease. Aside from early control of diet, another therapy could be a liver transplant, which provides enough volume of enzymes, offering the patient a chance of a normal diet and the ability to stop progression of the disease. While the liver has otherwise normal functioning, the concept of transplanting MSUD patient's liver, as a domino liver transplant, to a patient without the disease, where the muscles and kidney cover the metabolic needs, becomes a reality in practice. Herein, we report the first case of a domino liver transplant done in Saudi Arabia for MSUD.A 12-year-old, 33 kg patient, with MSUD was evaluated, and a liver transplant was indicated, planning to use his native liver as a domino liver transplant. He was diagnosed as having MSUD since birth, with a history of seizures and encephalitis 40 days after birth. He developed fine and gross motor dysfunction. He had good brain function, good performance in practical reasoning, speech, and language; however, there was a delay in his personal skills, hand coordination, and performance skills owing to spasticity in his hands. The second recipient was a 55-year-old, 61-kg female patient with HCV cirrhosis and HCC under Milan criteria, after transarterial chemoembolization. A 6-year-old brain dead donor secondary to a head trauma, with a body weight of 20 kg became available, and the decision to proceed with the transplant was taken. After recovering the 380-gram liver graft has a replaced right hepatic artery coming from the superior mesenteric artery, so the proximal abdominal and the thoracic aorta were recovered en bloc with the celiac and the superior mesenteric artery. The child with MSUD had a hepatectomy, which was done with the preservation of the native inferior vena cava, and the transplant was performed in a piggyback fashion. The portal vein was anastomosed end-to-end, and the arterial supply was re-established using the thoracic aorta of the donor as a jump graft to infrarenal aorta. The biliary anastomosis was ductto-duct. The second recipient received a modified piggyback technique. The graft weight was 564 grams, and it had 2 arteries-the right and a replaced left, originating from left gastric artery. Portal vein anastomosis was also done end-to-end. The arterial anastomoses were done under a microscope using the native right and left hepatic arterial stumps. The biliary anastomosis was duct-to-duct.The pediatric recipient was extubated on ...

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

Cited by 46 publications

References 17 publications

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor

Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living Donor

Successful living donor liver transplantation for classical maple syrup urine disease

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