{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:52:37Z","timestamp":1761101557261},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2001,6,1]],"date-time":"2001-06-01T00:00:00Z","timestamp":991353600000},"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":[[2001,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The turnaround time for diagnosis of maple syrup urine disease (MSUD) by classic serum amino acid analyses often requires 3\u20134 days. This is due to the need for branched\u2010chain amino acids (BCAA) to accumulate in the serum of the newborn before testing. The accumulation of BCAAs in infants with MSUD during this time increases the risk of the infant becoming clinically symptomatic. We have developed a noninvasive DNA\u2010based mismatch PCR\u2010RFLP assay for the Y393N <jats:italic>BCKDHA<\/jats:italic> allele (E1\u03b1 gene of the branched chain \u03b1\u2010keto acid dehydrogenase complex), the primary cause of MSUD in Old Order Mennonite communities. The homozygosity and high frequency of this mutation in the Mennonite community and its prevalence in compound heterozygote non\u2010Mennonite MSUD patients is of significance. We describe carrier testing, present the results of nine newborns diagnostically evaluated for the Y393N <jats:italic>BCKDHA<\/jats:italic> allele, and demonstrate the efficacy of this PCR\u2010RFLP assay for determining clinical status within 24 h after birth. Analyses within the first 24h of life allow for immediate diagnosis and treatment of infants homozygous for the Y393N MSUD defect. This is a significant improvement over the time required by current serum amino acid analysis methods.<\/jats:p>","DOI":"10.1023\/a:1010517005001","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T17:42:08Z","timestamp":1040665328000},"page":"393-403","source":"Crossref","is-referenced-by-count":10,"title":["Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR\u2010RFLP: Culturally permissible testing in the Mennonite community"],"prefix":"10.1002","volume":"24","author":[{"given":"L. D.","family":"Love\u2010Gregory","sequence":"first","affiliation":[{"name":"Genetics Area Program University of Missouri  Columbia Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A.","family":"Dyer","sequence":"additional","affiliation":[{"name":"Department of Child Health, Division of Medical Genetics University of Missouri  Columbia Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Grasela","sequence":"additional","affiliation":[{"name":"Department of Child Health, Division of Medical Genetics University of Missouri  Columbia Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E.","family":"Hillman","sequence":"additional","affiliation":[{"name":"Department of Child Health, Division of Medical Genetics University of Missouri  Columbia Missouri USA"},{"name":"Department of Biochemistry University of Missouri  Columbia Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. L.","family":"Phillips","sequence":"additional","affiliation":[{"name":"Genetics Area Program University of Missouri  Columbia Missouri USA"},{"name":"Department of Child Health, Division of Medical Genetics University of Missouri  Columbia Missouri USA"},{"name":"Department of Biochemistry University of Missouri  Columbia Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-2126(00)00105-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/41.1.62"},{"key":"e_1_2_1_4_1","first-page":"1239","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chuang DT","year":"1995"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1542\/peds.98.3.473","article-title":"Newborn Screening Fact Sheets","volume":"98","author":"Committee on Genetics","year":"1996","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.2741\/A299"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198212093072405"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)94087-1"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115363"},{"key":"e_1_2_1_10_1","first-page":"429","article-title":"Occurrence of a Tyr393 to Asn (Y393N) mutation in the E1\u03b1 gene of the branched\u2010chain \u03b1\u2010keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population","volume":"49","author":"Fisher CR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","first-page":"139A","article-title":"Maple syrup urine disease in the old Order Mennonites","volume":"33","author":"Marshall L","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(90)90723-Z"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00281061"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799628"},{"key":"e_1_2_1_15_1","first-page":"115","volume-title":"Laboratory Methods for Neonatal Screening","author":"Naylor EW","year":"1993"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(93)90123-I"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198403013100916"},{"key":"e_1_2_1_18_1","first-page":"259A","article-title":"High frequency of the Y393N mutation in the E1\u03b1 subunit of the branched chain \u03b1\u2010keto acid dehydrogenase complex in non\u2010Mennonite maple syrup urine disease patients","volume":"61","author":"Phillips CL","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114033"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1010517005001","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1010517005001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:22:32Z","timestamp":1694816552000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1010517005001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,6]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2001,6]]}},"alternative-id":["10.1023\/A:1010517005001"],"URL":"https:\/\/doi.org\/10.1023\/a:1010517005001","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,6]]}}}