{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T06:52:46Z","timestamp":1760424766320},"reference-count":0,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T00:00:00Z","timestamp":1165795200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a patient with carnitine palmitoyltransferase I (CPT I) deficiency, who presented with acute encephalopathy at 6 months of age. This was precipitated by an episode of gastroenteritis. No hypoglycaemia was documented, but there was hepatomegaly; blood tests revealed raised transaminases, a coagulopathy and severe hypertriglyceridaemia (48.8 mmol\/L) and hypercholesterolaemia (9.5 mmol\/L). The hyperlipidaemia resolved within 3 days of treatment and did not recur. At 2 years of age, the patient's liver function, growth and development are all normal. Hyperlipidaemia has been reported during acute illness in previous patients with CPT I deficiency but it is not a well\u2010recognized feature; it should alert metabolic specialists to this potential diagnosis.<\/jats:p>","DOI":"10.1007\/s10545-006-0480-z","type":"journal-article","created":{"date-parts":[[2006,12,11]],"date-time":"2006-12-11T08:51:55Z","timestamp":1165827115000},"page":"104-104","source":"Crossref","is-referenced-by-count":3,"title":["Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency"],"prefix":"10.1002","volume":"30","author":[{"given":"H.","family":"Worthington","sequence":"first","affiliation":[{"name":"Willink Unit Royal Manchester Children's Hospital Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. E.","family":"Olpin","sequence":"additional","affiliation":[{"name":"Chemical Pathology Department Sheffield Children's Hospital Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Blumenthal","sequence":"additional","affiliation":[{"name":"Paediatric Department Royal Oldham Hospital Oldham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. A. M.","family":"Morris","sequence":"additional","affiliation":[{"name":"Willink Unit Royal Manchester Children's Hospital Manchester UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,11]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0480-z","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-006-0480-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:07:49Z","timestamp":1694750869000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-006-0480-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,12,11]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1007\/s10545-006-0480-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-006-0480-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":[[2006,12,11]]}}}