Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency

J Inherit Metab Dis. 2007 Feb;30(1):104. doi: 10.1007/s10545-006-0480-z. Epub 2006 Dec 11.


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.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / diagnosis
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Child, Preschool
  • Humans
  • Hyperlipidemias / complications*
  • Hyperlipidemias / diagnosis*
  • Hyperlipidemias / enzymology*
  • Metabolism, Inborn Errors / complications*
  • Metabolism, Inborn Errors / diagnosis


  • Carnitine O-Palmitoyltransferase