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...

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Bibliographic Details
Published in:European journal of pediatrics 1993-04, Vol.152 (4), p.334-338
Main Authors: VIANEY-SABAN, C, MOUSSON, B, BERTRAND, C, STAMM, D, DUMOULIN, R, ZABOT, M. T, DIVRY, P, FLORET, D, MATHIEU, M
Format: Article
Language:English
Subjects:
Biological and medical sciences
Carnitine - metabolism
Carnitine O-Palmitoyltransferase - deficiency
Child, Preschool
Errors of metabolism
Fatty Acids - metabolism
Female
Fibroblasts - enzymology
Humans
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Oxidation-Reduction
Reye Syndrome - diagnosis
Reye Syndrome - metabolism
Skin - enzymology
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF01956748