Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia.
An apparently healthy girl aged 2 years 9 months developed a coma with hepatomegaly within 24 h after an influenza-like infection. Plasma glucose and urinary organic acid profile were normal but plasma and urinary carnitine concentrations were increased. Despite symptomatic therapy, she died 11 days later. Oxidation of [1-14C] palmitic acid in the patient's fibroblasts was severely decreased (13% of controls). Further investigations revealed a deficiency of carnitine palmitoyl transferase I (CPT I) in the patient's fibroblasts (15% of controls) whereas CPT II activity was normal. Only four patients with CPT I deficiency have been reported so far. The subtle clinical and biochemical presentation of this disorder, which may account for the small number of cases diagnosed, is discussed.
Vianey-Saban
C
C
Unité d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France.
Mousson
B
B
Bertrand
C
C
Stamm
D
D
Dumoulin
R
R
Zabot
M T
MT
Divry
P
P
Floret
D
D
Mathieu
M
M
D002331:Carnitine / Q000378:metabolism; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D002675:Child, Preschool; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D010084:Oxidation-Reduction; D012202:Reye Syndrome / Q000175:diagnosis* / Q000378:metabolism; D012867:Skin / Q000201:enzymology
D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine