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It was later confirmed as a deficiency of branched\u2010chain keto acid dehydrogenase (BCKDH), which is the second step in branched\u2010chain amino acid (BCAA) breakdown. MSUD is characterized by BCAA and branched\u2010chain keto acid (BCKA) accumulation. BCAAs are essential amino acids and powerful metabolic signals with severe consequences of both deprivation and accumulation. Treatment requires life\u2010long dietary restriction and monitoring of BCAAs. However, despite excellent compliance, children commonly suffer metabolic decompensation during intercurrent illness resulting in life\u2010threatening cerebral edema and dysmyelination. The mechanisms underlying brain injury have been poorly understood. Recent studies using newly developed mouse models of both classic and intermediate MSUD have yielded insight into the consequences of rapid BCAA accumulation. Additionally, these models have been used to test preliminary treatments aimed at competing with blood\u2010brain barrier transport of BCAA using norleucine. Assessment of biochemical changes with and without treatment suggests different roles for BCAA and BCKA in the mechanism of brain injury.<\/jats:p>","DOI":"10.1007\/s10545-011-9333-5","type":"journal-article","created":{"date-parts":[[2011,5,3]],"date-time":"2011-05-03T09:46:13Z","timestamp":1304415973000},"page":"71-79","source":"Crossref","is-referenced-by-count":23,"title":["Interrupting the mechanisms of brain injury in a model of maple syrup urine disease encephalopathy"],"prefix":"10.1002","volume":"35","author":[{"given":"William J.","family":"Zinnanti","sequence":"first","affiliation":[{"name":"Department of Neurology and Neurological Sciences Stanford University School of Medicine 300 Pasteur Drive, Room H3160 Stanford CA 94305 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"Lazovic","sequence":"additional","affiliation":[{"name":"Department of Radiology University of California Los Angeles Los Angeles CA 90095 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,4]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"1971","volume-title":"The metabolic and molecular bases of inherited disease","author":"Chuang DT","year":"2001"},{"key":"e_1_2_7_3_1","first-page":"196","article-title":"Biochemical basis of thiamin\u2010responsive maple syrup urine disease","volume":"95","author":"Chuang DT","year":"1982","journal-title":"Trans Assoc Am Physicians"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jcbfm.1982.45"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1700810209"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3002(60)90448-0"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.1977.0045"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02533565"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1992.tb09409.x"},{"issue":"1","key":"e_1_2_7_10_1","first-page":"60","article-title":"Hypoglycemia in maple syrup urine disease","volume":"113","author":"Donnell GN","year":"1967","journal-title":"Am J Dis Child"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2006.04332.x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)53663-2"},{"issue":"6","key":"e_1_2_7_13_1","first-page":"1445","article-title":"Maple syrup urine disease (branched chain ketoaciduria)","volume":"136","author":"Harper PA","year":"1990","journal-title":"Am J Pathol"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/124.suppl_8.1499S"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197305000-00003"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-33"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a128277"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M700198200"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(92)90038-Z"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/136.1.227S"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.20.10933"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2001.00156.x"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1968.tb06202.x"},{"issue":"2","key":"e_1_2_7_24_1","first-page":"348","article-title":"Maple syrup disease; 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