[Systemic carnitine deficiency: its place in Reye's syndrome (author's transl)].
A case of systemic carnitine deficiency in a 3-year-old child is reported. Clinical presentation included progressive cardiomyopathy and severe episodes of hypoglycaemia without ketosis, accompanied with hepatic encephalopathy. Each episode was initiated by upper respiratory infection and complicated by cardiac arrest. Oral carnitine (4 g/24 h) and low fat diet (20% of total calories) resulted in dramatic improvement of cardiac, hepatic and neuromuscular symptoms, while tissues remained depleted. Systemic carnitine deficiency should be suspected in patients with symptoms resembling Reye's syndrome.
D009202:Cardiomyopathies / Q000209:etiology; D002331:Carnitine / Q000172:deficiency*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D006501:Hepatic Encephalopathy / Q000209:etiology; D006801:Humans; D008171:Lung Diseases / Q000209:etiology; D008297:Male; D012202:Reye Syndrome / Q000175:diagnosis*
D002331:Carnitine
Déficit systémique en carnitine. Place dans le syndrome de Reye.