{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T01:32:16Z","timestamp":1790299936323,"version":"4.1.0"},"reference-count":48,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2019,12,18]],"date-time":"2019-12-18T00:00:00Z","timestamp":1576627200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Intensive Care Society"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:p>Carnitine palmitoyltransferase 2 deficiency is an inherited metabolic disorder involving a deficiency in a mitochondrial enzyme necessary for long chain fatty acid oxidation, and therefore decreased utilisation of fatty acids. The adult form of this condition leads to recurrent rhabdomyolysis triggered by exercise, fasting and infection. It is a very rare condition with only a few hundred reported cases worldwide. Here we present a case of severe rhabdomyolysis in the context of carnitine palmitoyltransferase 2 deficiency in which major organ involvement was avoided, and organ support was not needed. This prompted us to perform a systematic review of the existing case reports in the literature to ascertain the most frequent patterns of organ involvement and assess the outcomes that are seen in these patients. Our findings suggest that these patients most frequently develop isolated renal failure, often requiring renal replacement therapy; however, the outcomes following this are very good, supporting the early involvement of intensive care teams.<\/jats:p>","DOI":"10.1177\/1751143719889766","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T02:33:52Z","timestamp":1576722832000},"page":"165-173","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature"],"prefix":"10.1177","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2974-2916","authenticated-orcid":false,"given":"Nicholas","family":"Ivin","sequence":"first","affiliation":[{"name":"Critical Care Unit, West Suffolk Hospital, NHS Foundation Trust, Bury St Edmunds, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Della Torre","sequence":"additional","affiliation":[{"name":"Department of Critical Care, Imperial College Healthcare NHS Trust, St Mary's Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"Sanders","sequence":"additional","affiliation":[{"name":"Critical Care Unit, West Suffolk Hospital, NHS Foundation Trust, Bury St Edmunds, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8965-1691","authenticated-orcid":false,"given":"Matthew","family":"Youngman","sequence":"additional","affiliation":[{"name":"Critical Care Unit, West Suffolk Hospital, NHS Foundation Trust, Bury St Edmunds, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,12,18]]},"reference":[{"key":"bibr1-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1997.00001.x"},{"key":"bibr2-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.mam.2004.06.004"},{"key":"bibr3-1751143719889766","volume-title":"GeneReviews\u00ae","author":"Wieser T","year":"2004"},{"key":"bibr4-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-018-1702-3"},{"key":"bibr5-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00986.x"},{"key":"bibr6-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.08.004"},{"key":"bibr7-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.1.37"},{"key":"bibr8-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2014.02.011"},{"key":"bibr9-1751143719889766","volume":"10","author":"Yao M","year":"2015","journal-title":"PLoS ONE"},{"key":"bibr10-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000053"},{"key":"bibr11-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1007\/s10863-018-9781-9"},{"key":"bibr12-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2015.10.005"},{"key":"bibr13-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1111\/brv.12178"},{"key":"bibr14-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.12.026"},{"key":"bibr15-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2013.12.026"},{"key":"bibr16-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.04.008"},{"key":"bibr17-1751143719889766","volume-title":"GeneReviews\u00ae","author":"Wieser T","year":"1993"},{"key":"bibr18-1751143719889766","unstructured":"BIMDG: British Inherited Metabolic Disease Group, http:\/\/www.bimdg.org.uk\/guidelines\/guidelines-adult.asp?s=az&i=l (accessed 29 March 2019)."},{"key":"bibr19-1751143719889766","unstructured":"RESERVED IU-AR. Orphanet: carnitine palmitoyltransferase II deficiency, https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=EN&Expert=157 (accessed 29 March 2019)."},{"key":"bibr20-1751143719889766","unstructured":"Reference GH. CPT II deficiency. Genetics home reference, https:\/\/ghr.nlm.nih.gov\/condition\/carnitine-palmitoyltransferase-ii-deficiency (accessed 29 March 2019)."},{"key":"bibr21-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.09.007"},{"key":"bibr22-1751143719889766","unstructured":"Rhabdomyolysis, Critical Care Guidelines 2016 (updated 2019), Critical Care Unit, West Suffolk Hospital NHS Foundation Trust, Bury St Edmunds, UK (accessed February 2019)."},{"key":"bibr23-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0801327"},{"key":"bibr24-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1378\/chest.12-2016"},{"key":"bibr25-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1136\/emj.2006.043265"},{"key":"bibr26-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1093\/bjaceaccp\/mkt051"},{"key":"bibr27-1751143719889766","first-page":"398","volume":"38","author":"Thondebhavi Subbaramaiah M","year":"2010","journal-title":"Anaesth Intensive Care"},{"key":"bibr28-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00228-0"},{"key":"bibr29-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.1000097"},{"key":"bibr30-1751143719889766","doi-asserted-by":"publisher","DOI":"10.5409\/wjcp.v6.i4.161"},{"key":"bibr31-1751143719889766","doi-asserted-by":"publisher","DOI":"10.3109\/0886022X.2013.780979"},{"key":"bibr32-1751143719889766","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19102950"},{"key":"bibr33-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100024033"},{"key":"bibr34-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1007\/s13730-017-0292-z"},{"key":"bibr35-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2007.04.025"},{"key":"bibr36-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90167-2"},{"key":"bibr37-1751143719889766","first-page":"1438","volume":"48","author":"Ferrara AM","year":"2016","journal-title":"Cancer Res Treat Off J Korean Cancer Assoc"},{"key":"bibr38-1751143719889766","first-page":"205","volume":"74","author":"Gentili A","year":"2008","journal-title":"Minerva Anestesiol"},{"key":"bibr39-1751143719889766","doi-asserted-by":"publisher","DOI":"10.3889\/oamjms.2018.158"},{"key":"bibr40-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005627113617"},{"key":"bibr41-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-011-1763-7"},{"key":"bibr42-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2004.12.006"},{"key":"bibr43-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1987.03390010066030"},{"key":"bibr44-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.07.008"},{"key":"bibr45-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)00223-B"},{"key":"bibr46-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1007\/s001340100985"},{"key":"bibr47-1751143719889766","first-page":"417","volume":"61","author":"Uzel B","year":"2003","journal-title":"Neth J Med"},{"key":"bibr48-1751143719889766","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(95)00326-W"}],"container-title":["Journal of the Intensive Care Society"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1751143719889766","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1751143719889766","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1751143719889766","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:54:06Z","timestamp":1777460046000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1751143719889766"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,18]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1177\/1751143719889766"],"URL":"https:\/\/doi.org\/10.1177\/1751143719889766","relation":{},"ISSN":["1751-1437"],"issn-type":[{"value":"1751-1437","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12,18]]}}}