{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:58:18Z","timestamp":1777395498199,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T00:00:00Z","timestamp":1413936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>In neonates, very long chain acyl\u2010CoA dehydrogenase (VLCAD) deficiency is often characterized by cardiomyopathy, hepatic encephalopathy, or severe hypoketotic hypoglycemia, or a combination thereof. The purpose of this study was to further elucidate a familial VLCAD deficiency in three patients, two of whom died in the neonatal period. We report on a family with VLCAD deficiency. Acyl\u2010carnitine profiles were obtained from dried blood spot and\/or from oxidation of <jats:sup>13<\/jats:sup>C\u2010palmitate by cultured skin fibroblasts. In the index patient, VLCAD deficiency was ascertained by enzyme activity measurement in fibroblasts and by molecular analysis of <jats:italic>ACADVL<\/jats:italic>. At 30\u2009hr of life, the proband was diagnosed with hypoglycemia (1.77\u2009mmol\/L), rhabdomyolysis (CK: 12966 IU\/L) and hyperlactacidemia (10.6\u2009mmol\/L). Acylcarnitine profile performed at 31\u2009hr of life was consistent with VLCAD deficiency and confirmed by cultured skin fibroblast enzyme activity measurement. Molecular analysis of <jats:italic>ACADVL<\/jats:italic> revealed a homozygous splice\u2010site mutation (1077\u2009+\u20092T&gt;C). The acyl\u2010carnitine profile obtained from the sibling's original newborn screening cards demonstrated a similar, but less pronounced abnormal profile. In the proband, the initial metabolic crisis was controlled with 10% dextrose solution and oral riboflavin followed by specific diet (Basic\u2010F and medium chain triglyceride (MCT). This clinical report demonstrates a familial history of repeated neonatal deaths explained by VLCAD deficiency, and the clinical evolution of the latest affected, surviving sibling. It shows that very early metabolic screening is an effective approach to avoid sudden unexpected death. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36803","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T17:53:53Z","timestamp":1414000433000},"page":"211-214","source":"Crossref","is-referenced-by-count":13,"title":["Familial very long chain acyl\u2010CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis"],"prefix":"10.1002","volume":"167","author":[{"given":"Emmanuel","family":"Scalais","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology Department of Pediatrics Centre Hospitalier de Luxembourg Luxembourg City Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Bottu","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Centre Hospitalier de Luxembourg Luxembourg City Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald J. A.","family":"Wanders","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases Department of Pediatrics and Clinical Chemistry Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sacha","family":"Ferdinandusse","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases Department of Pediatrics and Clinical Chemistry Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans R.","family":"Waterham","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases Department of Pediatrics and Clinical Chemistry Academic Medical Center University of Amsterdam Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"De Meirleir","sequence":"additional","affiliation":[{"name":"UZ Brussels Pediatric Neurology and Metabolism Vrije Universiteit Brussels Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,10,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302261"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.09.008"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.100.22.2248"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113978"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199201000-00007"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0190-y"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00811.2005"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.2165\/00002018-200831040-00003"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1174"},{"key":"e_1_2_5_11_1","first-page":"604","article-title":"[Preoperative increase in the plasma concentration of free fatty acids during minor elective interventions using a conventional anesthesia technic with enflurane]","volume":"35","author":"Kleemann PP","year":"1986","journal-title":"Anaesthesist"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.99.10.1337"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2911"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0215311"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1476-5381.1987.tb11343.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9090-x"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.2042-3306.2012.00684.x"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/evj.12117"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.02.007"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)04064-2"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36803","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36803","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:55:02Z","timestamp":1696643702000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36803"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10,22]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1002\/ajmg.a.36803"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36803","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,22]]}}}