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… (More)
DOI: 10.1007/s10545-006-0480-z

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