Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency.
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.
Worthington
H
H
Willink Unit, Royal Manchester Children's Hospital, Manchester, UK.
Olpin
S E
SE
Blumenthal
I
I
Morris
A A M
AA
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
D002334:Carnitine O-Palmitoyltransferase