{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:50:25Z","timestamp":1790707825821,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1991,10,2]],"date-time":"1991-10-02T00:00:00Z","timestamp":686361600000},"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":[[1992,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is an autosomal recessive inherited disease due to a deficiency of any of the subunits, E<jats:sub>1<\/jats:sub>\u03b1, E<jats:sub>1<\/jats:sub>\u03b2 or E<jats:sub>2<\/jats:sub>, of the branched\u2010chain \u03b1\u2010ketoacid dehydrogenase complex (BCKDH). A large Mennonite kindred of MSUD has been studied in Pennsylvania, USA. In the present investigation, genomes from 70 members, including 12 patients belonging to eight different Mennonite MSUD pedigrees, were examined for possible abnormalities in the E<jats:sub>1<\/jats:sub>\u03b1 gene of BCKDH, by primer\u2010specified restriction map modification. A T\u2010to\u2010A substitution which generates an asparagine in place of a tyrosine at amino acid 394 of the mature E<jats:sub>1<\/jats:sub>\u03b1 subunit was present in both alleles in all the patients and in a single allele in all obligate carriers and several siblings. We describe a new technique for rapid and easy detection of the mutant gene in this population. These family studies provide additional evidence that Mennonite MSUD is caused by a missense mutation of the E<jats:sub>1<\/jats:sub>\u03b1 gene of BCKDH.<\/jats:p>","DOI":"10.1007\/bf01799628","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:23:37Z","timestamp":1119374617000},"page":"181-187","source":"Crossref","is-referenced-by-count":21,"title":["Gene analysis of mennonite maple syrup urine disease kindred using primer\u2010specified restriction map modification"],"prefix":"10.1002","volume":"15","author":[{"given":"H.","family":"Mitsubuchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Kumamoto University Medical School  Honjo 1\u20101\u20101 Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Matsuda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Medical School  Honjo 1\u20101\u20101 Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Nobukuni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Medical School  Honjo 1\u20101\u20101 Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Heidenreich","sequence":"additional","affiliation":[{"name":"Division of Biochemical Development and Molecular Disease The Children's Hospital of Philadelphia  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Indo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Medical School  Honjo 1\u20101\u20101 Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Medical School  Honjo 1\u20101\u20101 Kumamoto 860 Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Mallee","sequence":"additional","affiliation":[{"name":"Division of Biochemical Development and Molecular Disease The Children's Hospital of Philadelphia  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Segal","sequence":"additional","affiliation":[{"name":"Division of Biochemical Development and Molecular Disease The Children's Hospital of Philadelphia  Philadelphia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1991,10,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000469186"},{"key":"e_1_2_1_3_1","first-page":"671","volume-title":"The Metabolic Basis of Inherited Disease","author":"Danner DJ","year":"1989"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111783"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)83297-5"},{"key":"e_1_2_1_6_1","first-page":"429","article-title":"Occurrence of a Tyr 393 \u2192 Asn (Y393N) mutation in the E1\u03b1 gene of the branched\u2010chain \u03b1\u2010keto acid dehydrogenase complex in maple syrup urine disease patients from Mennonite population","volume":"49","author":"Fisher CR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.9.3606"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00293a011"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113064"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00451447"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.3.1245"},{"key":"e_1_2_1_12_1","article-title":"Maple syrup urine disease in the old order Mennonites.","volume":"33","author":"Marshall L","year":"1981","journal-title":"Am J Human Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(90)90723-Z"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)91347-8"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00457a009"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114690"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115209"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.75.10.4881"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-152827-0.50011-6"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(90)93446-V"},{"key":"e_1_2_1_21_1","first-page":"440","volume-title":"The Metabolic Basis of Inherited Disease","author":"Tanaka K","year":"1983"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01871245"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)48161-6"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(88)90390-3"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114033"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799628","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799628","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T16:02:55Z","timestamp":1694880175000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799628"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,10,2]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1007\/BF01799628"],"URL":"https:\/\/doi.org\/10.1007\/bf01799628","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,10,2]]}}}