{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:17:40Z","timestamp":1789179460526,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,2,1]],"date-time":"2001-02-01T00:00:00Z","timestamp":980985600000},"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":[[2001,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carnitine palmitoyltransferase type I (CPT I) is unique among long\u2010chain fatty acid oxidation enzymes in that there are two tissue\u2010specific isoforms, \u2018hepatic\u2019 and \u2018muscle\u2019, which are encoded by two separate genes. The \u2018hepatic\u2019 isoform is expressed in liver, kidney and fibroblasts and at low levels in the heart, while the other isoform occurs in skeletal muscle and is the predominant form in heart. Reported patients with CPT I deficiency lack activity of the hepatic isoform and present before 30 months of age with hypoketotic hypoglycaemia, hepatomegaly with raised transaminases, seizures and coma. We discuss four new cases in three families showing, variously, renal tubular acidosis, transient hyperlipidaemia and, paradoxically, myopathy with elevated creatinine kinase or cardiac involvement in the neonatal period as additional features that deserve wider recognition.<\/jats:p>","DOI":"10.1023\/a:1005694320063","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T23:07:17Z","timestamp":1040512037000},"page":"35-42","source":"Crossref","is-referenced-by-count":46,"title":["Features of carnitine palmitoyltransferase type I deficiency"],"prefix":"10.1002","volume":"24","author":[{"given":"S. E.","family":"Olpin","sequence":"first","affiliation":[{"name":"Neonatal Screening and Chemical Pathology  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Allen","sequence":"additional","affiliation":[{"name":"Neonatal Screening and Chemical Pathology  UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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