{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:36:33Z","timestamp":1762004193269,"version":"3.40.4"},"reference-count":14,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>Carnitine palmitoyltransferase (CPT) deficiencies are disorders of mitochondrial fatty acid oxidation (FAO). In fatty acid oxidation, long-chain fatty acids need the carnitine cycle to be transported from the cytosol to the mitochondria. In CPT II deficiency, long-chain acylcarnitines cannot be metabolised to carnitine and acyl-CoA, leading to accumulation of toxic long-chain acylcarnitines. Three clinical presentations of CPT II deficiency have been identified: the adult form, the infantile form and the neonatal form. The neonatal form of CPT II is the most severe and all reported patients died within a few days to 6 weeks after birth. The first case of a patient with neonatal CPT II deficiency surviving beyond the neonatal period is described. Unfortunately, the infant died at the age of 6 months due to untreatable cardiac arrhythmias.<\/jats:p>","DOI":"10.1136\/bcr.02.2009.1550","type":"journal-article","created":{"date-parts":[[2009,6,26]],"date-time":"2009-06-26T07:28:12Z","timestamp":1246001292000},"page":"bcr0220091550","source":"Crossref","is-referenced-by-count":4,"title":["Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival: Table 1"],"prefix":"10.1136","volume":"2009","author":[{"given":"Petra","family":"Hissink-Muller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Lopriore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolien","family":"Boelen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans","family":"Klumper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marinus","family":"Duran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans","family":"Walther","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2009,6,26]]},"reference":[{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.1","doi-asserted-by":"crossref","first-page":"1862","DOI":"10.1056\/NEJM199112263252607","article-title":"Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II","volume":"325","author":"Hug","year":"1991","journal-title":"N Engl J Med"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1457"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.3","doi-asserted-by":"publisher","DOI":"10.1097\/01.LAB.0000098428.51765.83"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.4","doi-asserted-by":"publisher","DOI":"10.1542\/peds.107.6.e103"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.5","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000161413.42874.74"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.6","first-page":"A245","article-title":"Lethal carnitine palmitoyltransferase (CPT) deficiency in newborns: a molecular genetic study","volume":"55","author":"Taroni","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.7","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10201"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.8","first-page":"109","article-title":"Carnitine palmitoyltransferase-type 2 deficiency. Two new cases and successfull prenatal diagnosis","volume":"49","author":"Witt","year":"1991","journal-title":"Am J Med Genet"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.9","doi-asserted-by":"publisher","DOI":"10.1177\/000992289903800102"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.10","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70073-0"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.11","doi-asserted-by":"publisher","DOI":"10.1007\/s100380300001"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.18.8429"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.13","first-page":"73A","article-title":"Carnitine palmitoyltransferase B deficiency: a heritable cause of neonatal cardiomyopathy and dysgenesis of the kidney","volume":"29","author":"Zinn","year":"1991","journal-title":"Pediatr Res"},{"key":"2025042508032648000_2009.jun25_1.bcr0220091550.14","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-37952"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr.02.2009.1550","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T15:03:33Z","timestamp":1745593413000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr.02.2009.1550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":14,"alternative-id":["10.1136\/bcr.02.2009.1550"],"URL":"https:\/\/doi.org\/10.1136\/bcr.02.2009.1550","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2009]]}}}