{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:09:51Z","timestamp":1792098591297,"version":"4.4.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2006,1,1]],"date-time":"2006-01-01T00:00:00Z","timestamp":1136073600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"vor","delay-in-days":6240,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Nutrition"],"published-print":{"date-parts":[[2006,1]]},"DOI":"10.1093\/jn\/136.1.243s","type":"journal-article","created":{"date-parts":[[2018,1,16]],"date-time":"2018-01-16T06:33:20Z","timestamp":1516084400000},"page":"243S-249S","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":119,"title":["Lessons from Genetic Disorders of Branched-Chain Amino Acid Metabolism"],"prefix":"10.1016","volume":"136","author":[{"given":"David T","family":"Chuang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacinta L","family":"Chuang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Max","family":"Wynn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1093\/jn\/136.1.243S_bib1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1542\/peds.14.5.462","article-title":"A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance","volume":"14","author":"Menkes","year":"1954","journal-title":"Pediatrics."},{"key":"10.1093\/jn\/136.1.243S_bib2","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/bmj.1.5114.91","article-title":"Maple syrup urine disease","volume":"30","author":"Dancis","year":"1959","journal-title":"Br Med J."},{"key":"10.1093\/jn\/136.1.243S_bib3","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1542\/peds.25.1.72","article-title":"Maple syrup urine disease: branched-chain keto-aciduria","volume":"25","author":"Dancis","year":"1960","journal-title":"Pediatrics."},{"key":"10.1093\/jn\/136.1.243S_bib4","doi-asserted-by":"crossref","first-page":"3092","DOI":"10.1016\/S0021-9258(18)53663-2","article-title":"Branched-chain aminotransferase isoenzymes. Purification and characterization of the rat brain isoenzyme","volume":"268","author":"Hall","year":"1993","journal-title":"J Biol Chem."},{"key":"10.1093\/jn\/136.1.243S_bib5","doi-asserted-by":"crossref","first-page":"4881","DOI":"10.1073\/pnas.75.10.4881","article-title":"Purification and characterization of branched chain \u03b1-keto acid dehydrogenase complex of bovine kidney","volume":"75","author":"Pettit","year":"1978","journal-title":"Proc Natl Acad Sci USA."},{"key":"10.1093\/jn\/136.1.243S_bib6","series-title":"The Metabolic and Molecular Basis of Inherited Disease.","first-page":"1971","article-title":"Maple syrup urine disease (branched-chain ketoaciduria)","author":"Chuang","year":"2001"},{"key":"10.1093\/jn\/136.1.243S_bib7","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/S0076-6879(00)24231-6","article-title":"Production of recombinant mammalian holo-E2 and E3 and reconstitution of functional branched-chain \u03b1-keto acid dehydrogenase complex with recombinant E1","volume":"324","author":"Chuang","year":"2000","journal-title":"Methods Enzymol."},{"key":"10.1093\/jn\/136.1.243S_bib8","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1542\/peds.34.4.454","article-title":"Maple syrup urine disease, with particular reference to dietotherapy","volume":"34","author":"Snyderman","year":"1964","journal-title":"Pediatrics."},{"key":"10.1093\/jn\/136.1.243S_bib9","first-page":"854","article-title":"Alloisoleucine formation in maple syrup urine disease: isotopic evidence for the mechanism","volume":"14","author":"Matthews","year":"1980","journal-title":"Pediatr Res."},{"key":"10.1093\/jn\/136.1.243S_bib10","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S0140-6736(71)91041-5","article-title":"Thiamine-responsive maple-syrup-urine disease","volume":"1","author":"Scriver","year":"1971","journal-title":"Lancet."},{"key":"10.1093\/jn\/136.1.243S_bib11","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1042\/bj2570625","article-title":"The 2-oxo acid dehydrogenase complexes: recent advances","volume":"257","author":"Yeaman","year":"1989","journal-title":"Biochem J."},{"key":"10.1093\/jn\/136.1.243S_bib12","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1203\/00006450-197712000-00006","article-title":"Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and \u03b1-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy","volume":"11","author":"Robinson","year":"1977","journal-title":"Pediatr Res."},{"key":"10.1093\/jn\/136.1.243S_bib13","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/S0022-3476(05)81036-4","article-title":"Cerebral edema causing death in children with maple syrup urine disease","volume":"119","author":"Riviello","year":"1991","journal-title":"J Pediatr."},{"key":"10.1093\/jn\/136.1.243S_bib14","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/0887-8994(93)90106-M","article-title":"Is demyelination a feature of maple syrup urine disease?","volume":"9","author":"Muller","year":"1993","journal-title":"Pediatr Neurol."},{"key":"10.1093\/jn\/136.1.243S_bib15","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1111\/j.1471-4159.1992.tb09409.x","article-title":"Glutamate and \u03b3-aminobutyric acid neurotransmitter systems in the acute phase of maple syrup urine disease and citullinemia encephalopathies in newborn calves","volume":"59","author":"Dodd","year":"1992","journal-title":"J Neurochem."},{"key":"10.1093\/jn\/136.1.243S_bib16","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1002\/(SICI)1098-1136(199709)21:1<92::AID-GLIA10>3.0.CO;2-W","article-title":"Brain metabolism of branched-chain amino acids","volume":"21","author":"Yudkoff","year":"1997","journal-title":"Glia."},{"key":"10.1093\/jn\/136.1.243S_bib17","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1159\/000111435","article-title":"Elevation of amino acids in the interstitial space of the rat brain following infusion of large neutral amino and keto acids by microdialysis: leucine infusion","volume":"18","author":"Huang","year":"1996","journal-title":"Dev Neurosci."},{"key":"10.1093\/jn\/136.1.243S_bib18","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1159\/000111410","article-title":"Use of intracellular versus extracellular specific activities in calculation of glutamine metabolism in astrocytes: effect of dibutyryl cyclic AMP","volume":"18","author":"Zielke","year":"1996","journal-title":"Dev Neurosci."},{"key":"10.1093\/jn\/136.1.243S_bib19","doi-asserted-by":"crossref","first-page":"S60","DOI":"10.1007\/PL00014324","article-title":"Liver transplantation in maple syrup urine disease","volume":"158","author":"Wendel","year":"1999","journal-title":"Eur J Pediatr."},{"key":"10.1093\/jn\/136.1.243S_bib20","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1023\/A:1026708618507","article-title":"Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation","volume":"23","author":"Bodner-Leidecker","year":"2000","journal-title":"J Inherit Metab Dis."},{"key":"10.1093\/jn\/136.1.243S_bib21","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1093\/ajcn\/68.1.72","article-title":"A molecular model of human branched-chain amino acid metabolism","volume":"68","author":"Suryawan","year":"1998","journal-title":"Am J Clin Nutr."},{"key":"10.1093\/jn\/136.1.243S_bib22","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0969-2126(00)00105-2","article-title":"Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease","volume":"8","author":"\u00c6varsson","year":"2000","journal-title":"Struct Fold Des."},{"key":"10.1093\/jn\/136.1.243S_bib23","doi-asserted-by":"crossref","first-page":"3448","DOI":"10.1016\/S0021-9258(18)94087-1","article-title":"Molecular phenotypes in cultured maple syrup urine disease cells: complete E1\u03b1 cDNA sequence and mRNA and subunit contents of the human branched-chain \u03b1-keto acid dehydrogenase complex","volume":"264","author":"Fisher","year":"1989","journal-title":"J Biol Chem."},{"key":"10.1093\/jn\/136.1.243S_bib24","first-page":"843","article-title":"Sequence of the E1 alpha subunit of branched-chain \u03b1-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease","volume":"46","author":"Zhang","year":"1990","journal-title":"Am J Hum Genet."},{"key":"10.1093\/jn\/136.1.243S_bib25","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1016\/0006-291X(91)91489-Y","article-title":"A 17-bp insertion and a Phe215 \u2192 Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34","volume":"174","author":"Fisher","year":"1991","journal-title":"Biochem Biophys Res Commun."},{"key":"10.1093\/jn\/136.1.243S_bib26","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1172\/JCI119586","article-title":"E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype","volume":"100","author":"Chuang","year":"1997","journal-title":"J Clin Invest."},{"key":"10.1093\/jn\/136.1.243S_bib27","doi-asserted-by":"crossref","first-page":"17792","DOI":"10.1074\/jbc.M313879200","article-title":"Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype","volume":"279","author":"Chuang","year":"2004","journal-title":"J Biol Chem."},{"key":"10.1093\/jn\/136.1.243S_bib28","doi-asserted-by":"crossref","first-page":"32968","DOI":"10.1074\/jbc.M403611200","article-title":"Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain \u03b1-keto acid decarboxylase\/dehydrogenase","volume":"279","author":"Li","year":"2004","journal-title":"J Biol Chem."},{"key":"10.1093\/jn\/136.1.243S_bib29","doi-asserted-by":"crossref","first-page":"2185","DOI":"10.1016\/j.str.2004.09.013","article-title":"Molecular mechanism for regulation of the human mitochondrial branched-chain \u03b1-ketoacid dehydrogenase complex by phosphorylation","volume":"12","author":"Wynn","year":"2004","journal-title":"Structure (Camb)."},{"key":"10.1093\/jn\/136.1.243S_bib30","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/1471-2091-3-8","article-title":"Mitochondria from cultured cells derived from normal and thiamine-responsive megaloblastic anemia individuals efficiently import thiamine diphosphate","volume":"3","author":"Song","year":"2002","journal-title":"BMC Biochem."},{"key":"10.1093\/jn\/136.1.243S_bib31","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1093\/jn\/129.3.641","article-title":"Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver","volume":"129","author":"Blair","year":"1999","journal-title":"J Nutr."},{"key":"10.1093\/jn\/136.1.243S_bib32","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/0003-9861(88)90252-4","article-title":"Monovalent cations and inorganic phosphate alter branched-chain \u03b1-ketoacid dehydrogenase-kinase activity and inhibitor sensitivity","volume":"266","author":"Shimomura","year":"1988","journal-title":"Arch Biochem Biophys."},{"key":"10.1093\/jn\/136.1.243S_bib33","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0065-2571(96)00009-X","article-title":"Studies on the regulation of the mitochondrial \u03b1-ketoacid dehydrogenase complexes and their kinases","volume":"37","author":"Harris","year":"1997","journal-title":"Adv Enzyme Regul."}],"container-title":["The Journal of Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022316622080427?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022316622080427?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/academic.oup.com\/jn\/article-pdf\/136\/1\/243S\/23894543\/243s.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,12]],"date-time":"2023-06-12T14:00:29Z","timestamp":1686578429000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022316622080427"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,1]]}},"alternative-id":["S0022316622080427"],"URL":"https:\/\/doi.org\/10.1093\/jn\/136.1.243s","relation":{},"ISSN":["0022-3166"],"issn-type":[{"value":"0022-3166","type":"print"}],"subject":[],"published":{"date-parts":[[2006,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lessons from Genetic Disorders of Branched-Chain Amino Acid Metabolism","name":"articletitle","label":"Article Title"},{"value":"The Journal of Nutrition","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1093\/jn\/136.1.243S","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2006 American Society for Nutrition. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}