title: Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency.
abstract: 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-recognized feature; it should alert metabolic specialists to this potential diagnosis.
authors.affiliation: Willink Unit, Royal Manchester Children's Hospital, Manchester, UK.
authors.forename: H
authors.initials: H
authors.lastname: Worthington
authors.forename: S E
authors.initials: SE
authors.lastname: Olpin
authors.forename: I
authors.initials: I
authors.lastname: Blumenthal
authors.forename: A A M
authors.initials: AA
authors.lastname: Morris
mesh_terms: D001927:Brain Diseases / Q000175:diagnosis; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002675:Child, Preschool; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis
chemical_list: D002334:Carnitine O-Palmitoyltransferase