Abstract
An apparently healthy girl aged 2 years 9 months developed a coma with hepatomegaly within 24h 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 (CPTI) 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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- CPT:
-
carnitine palmitoyl transferase
- PBS:
-
phosphate buffered saline
- PCA:
-
perchloric acid
References
Baltassat P, Carlier MC, Divry P, Gonon H (1988) Mesure de la carnitine libre et estérifiée dans le plasma, les urines et le tissu musculaire. Intérêt en pédiatrie. Ann Biol Clin 46: 632
Bertrand C, Dumoulin R, Vianey-Saban C, Divry P, Mathieu M (1992) Purification of electron transfer flavoprotein from pig liver mitochondria and its application to the diagnosis of deficiencies of acyl-CoA dehydrogenases in human fibroblasts. Clin Chim Acta 210: 75–91
Bougnieres PJ, Saudubray JM, Marsac C, Bernard O, Odievre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98: 742–746
Demaugre F, Bonnefont JP, Mitchell G, Nguyen-Hoang N, Pelet A, Rimoldi M, Di Donato S, Saudubray JM (1988) Hepatic and muscular presentations of carnitine palmitoyltransferase deficiency: two distinct entities. Pediatr Res 24: 308–311
Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray, JM (1991) Infantile form of carnitine palmitoyl transferase II deficiency with hepatomuscular symptoms and sudden death. J Clin Invest 87: 859–864
Di Mauro S, Papadimitriou A (1986) Carnitine palmitoyltransferase deficiency. In: Engel AG, Banker BQ (eds) Myology: basic and clinical. McGraw-Hill, New York, pp 1697–1708
Dionisi-Vici C, Bachmann C, Gradwohl M, Colombo JP (1988) Determination of medium chain fatty acids in serum. Clin Chim Acta 72: 233–238
Divry P, Vianey-Liaud C, Cotte J (1987) Routine gas chromatographic mass spectrometric (GC/MS) analysis of urinary organic acids. Results over a 3 year period. Biomed Environ Mass Spectrom 14:663–668
Gray RGF, Green A, Kelly DA (1991) A case of carnitine palmitoyl-transferase I deficiency. 2nd International Symposium Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation, Philadelphia (PA) 1991, 3–6 November
Haas RH, Wolf J, Saudubray JM, Nyhan WL (1988) Carnitine palmitoyl transferase I deficiency (abstract). Pediatr Res 23: 390A
Hugh G, Bove KE, Soukup S (1991) Lethal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325: 1862–1864
Murthy MSR, Pande SV (1987) Malonyl-CoA binding site and the overt carnitine on palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane. Proc Natl Acad Sci USA 13: 663–668
Tein I, Demaugre F, Bonnefont JP, Saudubray JM (1989) Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1? J Neurol Sci 29: 229–245
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Vianey-Saban, C., Mousson, B., Bertrand, C. et al. Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia. Eur J Pediatr 152, 334–338 (1993). https://doi.org/10.1007/BF01956748
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01956748