{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T08:38:10Z","timestamp":1765355890625},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,2,10]],"date-time":"2015-02-10T00:00:00Z","timestamp":1423526400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Transplantation"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Liver transplantation is an accepted treatment modality in the management of <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content>. To our knowledge, ours is only the second successful case to date of a patient with <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content> receiving an allograft from an <jats:styled-content style=\"fixed-case\">RLD<\/jats:styled-content> who is a heterozygous carrier for the disease. In view of the worldwide shortage of available organs for transplantation, heterozygote to homozygote transplantation in the setting of <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content> may provide a viable alternative for those awaiting transplantation. We report on the case of a two\u2010yr\u2010old infant with <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content>, who received a left lateral segment (segments <jats:styled-content style=\"fixed-case\">II<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>) liver transplant from his mother, a heterozygote carrier of one of the three abnormal genes implicated in <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content>. Post\u2010operative <jats:styled-content style=\"fixed-case\">BCAA<\/jats:styled-content> levels normalized in our patient and remained so on an unrestricted protein diet and during times of physiological stress. To date, this is only the second case of a successful <jats:styled-content style=\"fixed-case\">RLD<\/jats:styled-content> liver transplant in a child with <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content>. Preliminary results indicate that <jats:styled-content style=\"fixed-case\">RLD<\/jats:styled-content> liver transplants are at least equivalent to deceased donor liver transplants in the treatment of <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content>, although longer term follow\u2010up is required. Heterozygote to homozygote <jats:styled-content style=\"fixed-case\">RLD<\/jats:styled-content> transplant in patients with <jats:styled-content style=\"fixed-case\">MSUD<\/jats:styled-content> presents a new pool of potential liver donors.<\/jats:p>","DOI":"10.1111\/petr.12439","type":"journal-article","created":{"date-parts":[[2015,2,12]],"date-time":"2015-02-12T19:52:38Z","timestamp":1423770758000},"source":"Crossref","is-referenced-by-count":15,"title":["Heterozygote to homozygote related living donor liver transplantation in maple syrup urine disease: A case report"],"prefix":"10.1111","volume":"19","author":[{"given":"N.","family":"Patel","sequence":"first","affiliation":[{"name":"Department of Surgery University of the Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Loveland","sequence":"additional","affiliation":[{"name":"Department of Transplant Surgery Wits Donald Gordon Medical Centre University of the Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zuckerman","sequence":"additional","affiliation":[{"name":"Department of Transplant Surgery Wits Donald Gordon Medical Centre University of the Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Moshesh","sequence":"additional","affiliation":[{"name":"Department of Transplant Surgery Wits Donald Gordon Medical Centre University of the Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Britz","sequence":"additional","affiliation":[{"name":"Department of Transplant Surgery Wits Donald Gordon Medical Centre University of the Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Botha","sequence":"additional","affiliation":[{"name":"Department of Transplant Surgery Wits Donald Gordon Medical Centre University of the Witwatersrand Johannesburg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,10]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"416","article-title":"Detection of heterozygotes in maple\u2010syrup\u2010urine disease: Measurements of branched\u2010chain alpha\u2010ketoacid dehydrogenase and its components in cell cultures","volume":"34","author":"Chuang DT","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/316950"},{"key":"e_1_2_6_4_1","first-page":"97","article-title":"Molecular genetics of maple syrup urine disease in the Turkish population","volume":"51","author":"Gorzelany K","year":"2009","journal-title":"Turk J Pediatr"},{"key":"e_1_2_6_5_1","first-page":"8","article-title":"Maple syrup urine disease\u2013treatment and outcomes in patients of Turkish descent in Germany","volume":"47","author":"Simon E","year":"2005","journal-title":"Turk J Pediatr"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2009.99"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.06.033"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/136.1.243S"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-6143.2005.01209.x"},{"key":"e_1_2_6_10_1","first-page":"1","article-title":"Liver transplantation for maple syrup urine disease: Our perspective as pediatricians","volume":"22","author":"Morton HD","year":"2005","journal-title":"MSUD Fam Supp Newsl"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2010.01411.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M313879200"},{"key":"e_1_2_6_13_1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1542\/peds.14.5.462","article-title":"A new syndrome: Progressive familial infantile cerebral dysfunction with an unusual urinary substance","volume":"14","author":"Menkes JH","year":"1954","journal-title":"Pediatrics"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/323677"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.22443"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/lt.20744"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1590\/1414-431X20143830"}],"container-title":["Pediatric Transplantation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fpetr.12439","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/petr.12439","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T00:15:48Z","timestamp":1696205748000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/petr.12439"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,10]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1111\/petr.12439"],"URL":"https:\/\/doi.org\/10.1111\/petr.12439","archive":["Portico"],"relation":{},"ISSN":["1397-3142","1399-3046"],"issn-type":[{"value":"1397-3142","type":"print"},{"value":"1399-3046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,10]]}}}