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The respective oxidative pathways subsequently diverge and at the final steps yield acetyl- and\/or propionyl-CoA that enter the Krebs cycle. Many disorders in these pathways are diagnosed through expanded newborn screening by tandem mass spectrometry. Maple syrup urine disease (MSUD) is the only disorder of the group that is associated with elevated body fluid levels of the BCAAs. Due to the irreversible oxidative decarboxylation step distal enzymatic blocks in the pathways do not result in the accumulation of amino acids, but rather to CoA-activated small carboxylic acids identified by gas chromatography mass spectrometry analysis of urine and are therefore classified as organic acidurias. Disorders in these pathways can present with a neonatal onset severe-, or chronic intermittent- or progressive forms. Metabolic instability and increased morbidity and mortality are shared between inborn errors in the BCAA pathways, while treatment options remain limited, comprised mainly of dietary management and in some cases solid organ transplantation.<\/jats:p>","DOI":"10.3233\/trd-160009","type":"journal-article","created":{"date-parts":[[2016,10,14]],"date-time":"2016-10-14T10:43:25Z","timestamp":1476441805000},"page":"91-110","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":47,"title":["Disorders of branched chain amino acid metabolism"],"prefix":"10.1177","volume":"1","author":[{"given":"I.","family":"Manoli","sequence":"first","affiliation":[{"name":"Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.P.","family":"Venditti","sequence":"additional","affiliation":[{"name":"Organic Acid Research Section, Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2016,10,12]]},"reference":[{"key":"ref001","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.nu.04.070184.002205"},{"key":"ref002","unstructured":"ChuangD.T., WynnR.M. and ShihV.E., Maple Syrup Urine Disease (Branched-Chain Ketoaciduria, (McGraw Hill, New York, 2008)."},{"key":"ref003","doi-asserted-by":"publisher","DOI":"10.1097\/00075197-200109000-00013"},{"key":"ref004","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)77645-5"},{"key":"ref005","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.17.11647"},{"key":"ref006","doi-asserted-by":"publisher","DOI":"10.1042\/bj20021266"},{"key":"ref007","doi-asserted-by":"publisher","DOI":"10.1101\/gad.887201"},{"key":"ref008","first-page":"83","volume":"26","author":"Frost R.A.","year":"2011","journal-title":"Physiology (Bethesda)"},{"key":"ref009","doi-asserted-by":"publisher","DOI":"10.2337\/diab.29.6.431"},{"key":"ref010","doi-asserted-by":"publisher","DOI":"10.1038\/288187a0"},{"key":"ref011","doi-asserted-by":"publisher","DOI":"10.2337\/db06-0868"},{"key":"ref012","doi-asserted-by":"publisher","DOI":"10.1210\/en.2002-0072"},{"key":"ref013","doi-asserted-by":"publisher","DOI":"10.1172\/JCI1326"},{"key":"ref014","doi-asserted-by":"publisher","DOI":"10.2337\/db07-0573"},{"key":"ref015","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124147"},{"key":"ref016","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.6.999"},{"key":"ref017","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81037-6"},{"key":"ref018","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0315-y"},{"key":"ref019","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.11.010"},{"key":"ref020","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.11.010"},{"key":"ref021","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2007.098434"},{"key":"ref022","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2008.105270"},{"key":"ref023","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1345-1"},{"key":"ref024","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0278-z"},{"key":"ref025","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0892-z"},{"key":"ref026","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.148957"},{"key":"ref027","unstructured":"StraussK.A., PuffenbergerE.G. and MortonD.H., Maple Syrup Urine Disease. in GeneReviews [Internet]. 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