{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:08:09Z","timestamp":1761718089930},"reference-count":10,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[2009,2,24]],"date-time":"2009-02-24T00:00:00Z","timestamp":1235433600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011057","name":"National Center for Genetic Engineering and Biotechnology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by defective activity of the branched\u2010chain \u03b1\u2010keto\u2010acid dehydrogenase (BCKD) complex. The disease\u2010causing mutations can affect the <jats:italic>BCKDHA<\/jats:italic>, <jats:italic>BCKDHB<\/jats:italic> or <jats:italic>DBT<\/jats:italic> genes encoding for the E1a, E1b, and E2 subunits, respectively, of the BCKD complex. Here we report a girl who first presented to our clinic at 4 years of age with profound mental retardation. A diagnosis of MSUD was subsequently made based on the results of plasma amino acid analysis. Mutation analysis confirmed that she was homozygous for a novel mutation, c.529C&gt;T (p.Q177X) in <jats:italic>BCKDHA<\/jats:italic>, while both parents, who were first cousins, were heterozygous. This enabled us to give an option of prenatal diagnosis to the parents. The prenatal testing for MSUD was performed during the mother's subsequent pregnancy and revealed that the fetus was heterozygous for the mutation. The healthy male neonate was born and his genotype was tested by restriction enzyme analysis, which confirmed the result of the prenatal testing. In summary, a late diagnosis of MSUD in patients without an unusual odour could occur especially in countries without neonatal screening programs as seen in the index patient. Mutation detection was, however, still beneficial to the family since prenatal testing could be performed in subsequent pregnancies. In addition, a novel mutation was found, expanding the mutation spectrum of this disease.<\/jats:p>","DOI":"10.1007\/s10545-009-1022-2","type":"journal-article","created":{"date-parts":[[2009,2,24]],"date-time":"2009-02-24T15:37:22Z","timestamp":1235489842000},"page":"33-36","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis of a novel mutation, c.529C&gt;T (p.Q177X), in the <i>BCKDHA<\/i> gene in a family with maple syrup urine disease"],"prefix":"10.1002","volume":"32","author":[{"given":"R.","family":"Tammachote","sequence":"first","affiliation":[{"name":"Department of Botany, Faculty of Science Chulalongkorn University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Tongkobpetch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Desudchit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Suphapeetiporn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand"},{"name":"Department of Pediatrics King Chulalongkorn Memorial Hospital Sor Kor Building 11th floor Bangkok 10330 Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Shotelersuk","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Chulalongkorn University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,2,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/41.1.62"},{"key":"e_1_2_7_3_1","first-page":"1971","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chuang DT","year":"2001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.2741\/A299"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.11.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/135.6.1565S"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.6.999"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/316950"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1142\/9789812385239_0015"},{"key":"e_1_2_7_10_1","first-page":"8","article-title":"Maple syrup urine disease\u2010treatment and outcome in patients of Turkish descent in Germany","volume":"47","author":"Simon E","year":"2005","journal-title":"Turk J Pediatr"},{"key":"e_1_2_7_11_1","first-page":"39","article-title":"Molecular defects in the E1 alpha subunit of the branched\u2010chain alpha\u2010ketoacid dehydrogenase complex that cause maple syrup urine disease","volume":"8","author":"Zhang B","year":"1991","journal-title":"Mol Biol Med"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1022-2","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1022-2","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1022-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:19:02Z","timestamp":1694747942000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1022-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,24]]},"references-count":10,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-1022-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1022-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,24]]}}}