{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:50:28Z","timestamp":1790707828632,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1994,3,12]],"date-time":"1994-03-12T00:00:00Z","timestamp":763430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is an autosomal recessive disease due to deficiency of the branched\u2010chain \u03b1\u2010ketoacid dehydrogenase (BCKDH) caused by a large number of mutations. In the present study, DNA from Italian patients and their relatives was examined for three point mutations (Y393N in the E<jats:sub>1\u03b1<\/jats:sub> gene, T841G and G1031A in the E<jats:sub>2<\/jats:sub> gene) and two deletions (\u2212G at the intron\/exon border of exon 8 in the E<jats:sub>2<\/jats:sub> gene and an 11 bp deletion in exon 1 of the E<jats:sub>1\u03b2<\/jats:sub> gene) using the polymerase chain reaction (PCR) followed by allele\u2010specific oligonucleotide (ASO) hybridization, gene\u2010scanning size analysis of fluorescent\u2010tagged PCR products and\/or automated DNA sequence analysis. Our results show that two different mutations account for 7 of the 20 mutant MSUD alleles. Two unrelated affected children, two of their parents and one sibling were carriers for the 11 bp deletion in the E<jats:sub>1\u03b2<\/jats:sub> gene, one patient and her mother were heterozygous for Y393N in E<jats:sub>1\u03b1<\/jats:sub>, while T841G, G1031A and the \u2212G deletion in E<jats:sub>2<\/jats:sub> were not detected. This study is the first attempt to characterize at a nucleic acid level MSUD mutations in Italy. Our results indicate that additional defects are present in the Italian population and that, unlike the Mennonites, a number of different MSUD mutations exist in Italians.<\/jats:p>","DOI":"10.1007\/bf00712006","type":"journal-article","created":{"date-parts":[[2004,12,1]],"date-time":"2004-12-01T05:22:31Z","timestamp":1101878551000},"page":"652-660","source":"Crossref","is-referenced-by-count":4,"title":["Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients"],"prefix":"10.1002","volume":"17","author":[{"given":"T.","family":"Parrella","sequence":"first","affiliation":[{"name":"Molecular Biology Diagnostic Unit, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Division of Hematology, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Surrey","sequence":"additional","affiliation":[{"name":"Division of Hematology, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Iolascon","sequence":"additional","affiliation":[{"name":"Dipartimento di Pediatria Universita' di Napoli  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Sartore","sequence":"additional","affiliation":[{"name":"Molecular Biology Diagnostic Unit, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Division of Hematology, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Heidenreich","sequence":"additional","affiliation":[{"name":"Division of Metabolism, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Diamond","sequence":"additional","affiliation":[{"name":"Division of Genetics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ponzone","sequence":"additional","affiliation":[{"name":"Clinica Pediatrica Universita' di Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Guardamagna","sequence":"additional","affiliation":[{"name":"Clinica Pediatrica Universita' di Torino  Torino Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. B.","family":"Burlina","sequence":"additional","affiliation":[{"name":"Dipartimento di Pediatria Universita' di Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Cerone","sequence":"additional","affiliation":[{"name":"1a Clinica Pediatrica Istituto G. Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Parini","sequence":"additional","affiliation":[{"name":"2a Clinica Pediatrica, Istituti Clinici di Perfezionamento Universita' di Milano  Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dionisi\u2010Vici","sequence":"additional","affiliation":[{"name":"Ospedale \u2018Bambino Gesu\u2019  Roma Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Rappaport","sequence":"additional","affiliation":[{"name":"Division of Hematology, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fortina","sequence":"additional","affiliation":[{"name":"Molecular Biology Diagnostic Unit, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Division of Hematology, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, The Children's Hospital of Philadelphia The University of Pennsylvania School of Medicine  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1994,3,12]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Taq DyeDeoxy\u2122 Terminator Cycle Sequencing Kit","year":"1991"},{"key":"e_1_2_1_3_1","first-page":"49","article-title":"Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl 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