{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:03:13Z","timestamp":1761102193377},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T00:00:00Z","timestamp":1452124800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T00:00:00Z","timestamp":1452124800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Very long chain acyl\u2010CoA dehydrogenase deficiency (VLCADD, OMIM #201475) has been increasingly diagnosed since the advent of expanded newborn screening (NBS). Elevated levels of tetradecenoyl\u2010L\u2010carnitine (C14:1) in newborn screening blood spot samples are particularly common in New Zealand, however this has not translated into increased VLCADD clinical presentations. A high proportion of screen\u2010positive cases in NZ are of Maori or Pacific ethnicity and positive for the c.1226C\u2009&gt;\u2009T (p.Thr409Met) <jats:italic>ACADVL<\/jats:italic> gene variant. We performed a retrospective, blinded, case\u2013control study of 255 cases, born between 2006 and 2013, with elevated NBS C14:1 levels between 0.9 and 2.4 \u03bcmol\/L, below the NZ C14:1 notification cut\u2010off of 2.5 \u03bcmol\/L. Coded healthcare records were audited for cases and age\u2010 and ethnicity\u2010 matched controls. The clinical records of those with possible VLCADD\u2010related symptoms were reviewed. The follow\u2010up period was 6 months to 7 years. Two of 247 cases (0.8 %) had possible VLCADD\u2010like symptoms while four of 247 controls (2 %) had VLCADD\u2010like symptoms (p\u2009=\u20090.81). Maori were overrepresented (68 % of the cohort vs 15 % of population). Targeted analysis of the c.1226 locus revealed the local increase in screening C14:1 levels is associated with the c.1226C\u2009&gt;\u2009T variant (97\/152 alleles tested), found predominantly in Maori and Pacific people. There was no increase in clinically significant childhood disease, irrespective of ethnicity. The study suggests that children with elevated C14:1, between 0.9\u20102.4 \u03bcmol\/L, on NBS are at very low risk of clinically significant childhood disease. A minimally interventional approach to managing these patients is indicated, at least in the New Zealand population.<\/jats:p>","DOI":"10.1007\/s10545-015-9911-z","type":"journal-article","created":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T10:18:21Z","timestamp":1452161901000},"page":"409-414","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["The natural history of elevated tetradecenoyl\u2010L\u2010carnitine detected by newborn screening in New Zealand: implications for very long chain acyl\u2010CoA dehydrogenase deficiency screening and treatment"],"prefix":"10.1002","volume":"39","author":[{"given":"Bryony","family":"Ryder","sequence":"first","affiliation":[{"name":"Starship Children's Hospital Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Detlef","family":"Knoll","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening Unit Auckland City Hospital Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald R.","family":"Love","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics, LabPLUS Auckland City Hospital Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phillip","family":"Shepherd","sequence":"additional","affiliation":[{"name":"Auckland Uniservices Ltd Grafton Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer M.","family":"Love","sequence":"additional","affiliation":[{"name":"Diagnostic Genetics, LabPLUS Auckland City Hospital Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter W.","family":"Reed","sequence":"additional","affiliation":[{"name":"Children's Research Centre Starship Children's Health Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"de Hora","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening Unit Auckland City Hospital Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dianne","family":"Webster","sequence":"additional","affiliation":[{"name":"Newborn Metabolic Screening Unit Auckland City Hospital Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Glamuzina","sequence":"additional","affiliation":[{"name":"National Metabolic Service Starship Children's Hospital PO Box 92024 Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Callum","family":"Wilson","sequence":"additional","affiliation":[{"name":"National Metabolic Service Starship Children's Hospital PO Box 92024 Auckland New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302261"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.12.012"},{"key":"e_1_2_10_4_1","doi-asserted-by":"crossref","unstructured":"GabrielS ZiaugraL TabbaaD(2009)SNP genotyping using the Sequenom MassARRAY iPLEX platform.Curr Protoc Hum Genet.2.12.1\u20132.12.18.","DOI":"10.1002\/0471142905.hg0212s60"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9391-8"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0666"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.01.009"},{"issue":"1","key":"e_1_2_10_8_1","first-page":"27","article-title":"Clinical, molecular and biochemical characteristics of patients with elevated tetradecenoylcarnitine (C14: 1) detected by newborn screening in New Zealand: support for a common, likely benign mutation in the Pacific population. Poster (P035) presented at SSIEM 2014 Annual Symposium, September 2\u20135 Innsbruck, Austria","volume":"37","author":"Ryder B","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.09.026"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.037"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1125-9"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1126-8"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9188-1"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.04.063"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_129"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10545-015-9911-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-015-9911-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-015-9911-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10545-015-9911-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:52:52Z","timestamp":1694749972000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-015-9911-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,7]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1007\/s10545-015-9911-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-015-9911-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,7]]}}}