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Mutation analysis of the E1\u03b1, E1\u03b2, and E2 genes of the BCKAD complex in 12 Turkish MSUD patients yielded three disease\u2010specific mutations and a polymorphism in the E1\u03b1 gene, none in the E1\u03b2 gene and one mutation in the E2 gene. Among them, three missense mutations (Q80E, C213Y, T106M) and the F280F polymorphism occurring in the E1\u03b1 gene and the splice site mutation (IVS3 \u2212 1G &gt; A) in the E2 gene were novel. Three of the missense mutations and the splicing mutation occurred homozygously and caused classical MSUD. One patient carried the splicing mutation homozygously and the T106M mutation in the heterozygous state; this patient is the first case having simultaneously two different mutations in two different genes in the BCKAD complex. IVS3 \u2212 1G &gt; A splicing mutation detected on the E2 gene causes deletion of the first 14 bp of exon 3 in the mutant mRNA extending between 190 and 204 nt. The deletion spans the cleavage point between mitochondrial targeting and lipoyl\u2010bearing site of the E2 protein.<\/jats:p>","DOI":"10.1023\/a:1015668425004","type":"journal-article","created":{"date-parts":[[2003,3,15]],"date-time":"2003-03-15T13:06:09Z","timestamp":1047733569000},"page":"89-97","source":"Crossref","is-referenced-by-count":15,"title":["Maple syrup urine disease: Mutation analysis in Turkish patients"],"prefix":"10.1002","volume":"25","author":[{"given":"A.","family":"Dursun","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hacettepe University School of Medicine  Ankara Turkey"},{"name":"Department of Pediatrics, Metabolism and Nutrition, Unit Hacettepe University School of Medicine  Ankara 06100 Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Henneke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Heinrich Heine University  Dusseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"\u00d6zg\u00fcl","sequence":"additional","affiliation":[{"name":"Child Health Institute TUBITAK DNA\/Cell Bank and Gene Research Laboratory Hacettepe University School of Medicine  Ankara"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Gartner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Heinrich Heine University  Dusseldorf Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Co\u015fkun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hacettepe University School of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Tokatli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hacettepe University School of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. 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