{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T04:10:21Z","timestamp":1794024621815,"version":"4.8.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:p>Medium chain acyl CoA dehydrogenase deficiency (MCAD) is the most common inborn error of fatty acid oxidation. This condition may lead to cellular energy shortage and cause severe clinical events such as hypoketotic hypoglycemia, Reye syndrome and sudden death. MCAD deficiency usually presents around three to six months of life, following catabolic stress as intercurrent infections or prolonged fasting, whilst neonatal-onset of the disease is quite rare. We report the case of an apparently healthy newborn who suddenly died at the third day of life, in which the diagnosis of MCAD deficiency was possible through peri-mortem blood-spot acylcarnitine analysis that showed very high concentrations of octanoylcarnitine. Genetic analysis at the ACADM locus confirmed the biochemical findings by demonstrating the presence in homozygosity of the frame-shift c.244dup1 (p.Trp82LeufsX23) mutation, a severe genotype that may explain the unusual and very early fatal outcome in this newborn. This report confirms that inborn errors of fatty acid oxidation represent one of the genetic causes of sudden unexpected deaths in infancy (SUDI) and underlines the importance to include systematically specific metabolic screening in any neonatal unexpected death.<\/jats:p>","DOI":"10.1186\/1824-7288-38-59","type":"journal-article","created":{"date-parts":[[2012,10,24]],"date-time":"2012-10-24T16:15:35Z","timestamp":1351095335000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype"],"prefix":"10.1186","volume":"38","author":[{"given":"Cristina","family":"Lovera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Porta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Caciotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Catarzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Cassanello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ubaldo","family":"Caruso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rita","family":"Gallina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Morrone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Spada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,10,24]]},"reference":[{"key":"239_CR1","doi-asserted-by":"publisher","first-page":"e506","DOI":"10.1542\/peds.2004-0683","volume":"114","author":"SH Opdal","year":"2004","unstructured":"Opdal SH, Rognum TO: The sudden infant death syndrome gene: does it exist?. Pediatrics. 2004, 114: e506-e512. 10.1542\/peds.2004-0683.","journal-title":"Pediatrics"},{"key":"239_CR2","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1002\/humu.20163","volume":"25","author":"EM Maier","year":"2005","unstructured":"Maier EM, Liebl B, R\u00f6schinger W, Nennstiel-Ratzel U, Fingerhut R, Olgem\u00f6ller B, Busch U, Krone N, V Kries R, Roscher AA: Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2005, 25: 443-452. 10.1002\/humu.20163.","journal-title":"Hum Mutat"},{"key":"239_CR3","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1016\/j.ymgme.2009.10.188","volume":"99","author":"GL Arnold","year":"2010","unstructured":"Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M: Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Mol Genet Metab. 2010, 99: 263-268. 10.1016\/j.ymgme.2009.10.188.","journal-title":"Mol Genet Metab"},{"key":"239_CR4","first-page":"1736","volume-title":"Nelson Textbook of Pediatrics","author":"CE Hunt","year":"2007","unstructured":"Hunt CE, Hauch FR: Sudden infant death syndrome. Nelson Textbook of Pediatrics. Edited by: Kliegman R, Behrman RE, Jenson HB, Stanton BF. 2007, Saunders Elsevier, Philadelphia, 1736-1742. 18","edition":"18"},{"key":"239_CR5","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1007\/s10545-010-9115-5","volume":"33","author":"UA Schatz","year":"2010","unstructured":"Schatz UA, Ensenauer R: The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. J Inherit Metab Dis. 2010, 33: 513-520. 10.1007\/s10545-010-9115-5.","journal-title":"J Inherit Metab Dis"},{"key":"239_CR6","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1016\/S0022-3476(94)70363-9","volume":"124","author":"AK Iafolla","year":"1994","unstructured":"Iafolla AK, Thompson RJ, Roe CR: Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr. 1994, 124: 409-415. 10.1016\/S0022-3476(94)70363-9.","journal-title":"J Pediatr"},{"key":"239_CR7","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1007\/s10545-007-0492-3","volume":"31","author":"TG Derks","year":"2008","unstructured":"Derks TG, Boer TS, van Assen A, Bos T, Ruiter J, Waterham HR, Niezen-Koning KE, Wanders RJ, Rondeel JM, Loeber JG, Ten Kate LP, Smit GP, Reijngoud DJ: Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis. 2008, 31: 88-96. 10.1007\/s10545-007-0492-3.","journal-title":"J Inherit Metab Dis"},{"key":"239_CR8","unstructured":"Human Genome Mutation Database: Human Genome Mutation Database.http:\/\/www.hgmd.cf.ac.uk\/ac\/index.php,"},{"key":"239_CR9","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1007\/s10545-006-0292-1","volume":"29","author":"WJ Rhead","year":"2006","unstructured":"Rhead WJ: Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. J Inherit Metab Dis. 2006, 29: 370-377. 10.1007\/s10545-006-0292-1.","journal-title":"J Inherit Metab Dis"},{"key":"239_CR10","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.ymgme.2005.09.020","volume":"87","author":"L Waddell","year":"2006","unstructured":"Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B: Medium-chain acyl-CoA dehydrogenase deficiency: genotype\u2013biochemical phenotype correlations. Mol Genet Metab. 2006, 87: 32-39. 10.1016\/j.ymgme.2005.09.020.","journal-title":"Mol Genet Metab"},{"key":"239_CR11","doi-asserted-by":"publisher","first-page":"1408","DOI":"10.1086\/320602","volume":"68","author":"BS Andresen","year":"2001","unstructured":"Andresen BS, Dobrowolski SF, O'Reilly L, Muenzer J, McCandless SE, Frazier DM, Udvari S, Bross P, Knudsen I, Banas R, Chace DH, Engel P, Naylor EW, Gregersen N: Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS\/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001, 68: 1408-1418. 10.1086\/320602.","journal-title":"Am J Hum Genet"}],"container-title":["Italian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1824-7288-38-59.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T20:22:41Z","timestamp":1630527761000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijponline.biomedcentral.com\/articles\/10.1186\/1824-7288-38-59"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,24]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["239"],"URL":"https:\/\/doi.org\/10.1186\/1824-7288-38-59","relation":{},"ISSN":["1824-7288"],"issn-type":[{"value":"1824-7288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,24]]},"assertion":[{"value":"25 September 2012","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2012","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 October 2012","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"59"}}