caa a22 4500 467933669 CHVBK 20180406152950.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0355-3 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0355-3 Prolonged moderate-intensity exercise without and with L -carnitine supplementation in patients with MCAD deficiency [Elektronische Daten] [H. Huidekoper, J. Schneider, T. Westphal, F. Vaz, M. Duran, F. Wijburg] Summary: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is probably the most common inborn error of fatty acid oxidation (FAO). Routine L-carnitine supplementation in the treatment of MCADD is controversial. To establish the effects of L-carnitine supplementation during prolonged moderate-intensity exercise in MCADD, five patients and three control subjects were studied during 2 hours of moderate-intensity exercise after a 12-hour fast. Patients were studied twice, once with and once without L-carnitine supplementation (50 mg/kg per day). Blood samples were collected before, during and after exercise, and analysed for routine parameters, acylcarnitines and carnitine biosynthesis intermediates. Urine was collected before and after exercise, and analysed for acylcarnitines. All patients were able to complete the exercise test without any apparent clinical or biochemical adverse effects, even without L-carnitine supplementation. A significant rise in plasma free fatty acids and octanoylcarnitine levels during exercise was seen in all patients, indicating a substantial increase in FAO during exercise. Octanoylcarnitine levels in plasma were significantly higher in patients with L-carnitine supplementation, suggesting increased clearance of accumulating acylcarnitines. A statistically significant increase of plasma and urinary free carnitine levels, as well as of plasma γ-butyrobetaine was seen in MCADD patients without L-carnitine supplementation. These data suggest an increase in carnitine biosynthesis. In conclusion, although L-carnitine supplementation may promote clearance of accumulating acylcarnitines during moderate-intensity exercise, no apparent beneficial effect of this supplementation on clinical and biochemical parameters was observed in MCADD patients. Our results suggest that MCADD patients are able to increase carnitine biosynthesis during exercise to compensate for carnitine losses. SSIEM and Springer, 2006 Huidekoper H. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Schneider J. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Westphal T. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Vaz F. Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Duran M. Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Wijburg F. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 631-636 0141-8955 29:5<631 2006 29 10545 https://doi.org/10.1007/s10545-006-0355-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0355-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Huidekoper H. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Schneider J. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Westphal T. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Vaz F. Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Duran M. Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Wijburg F. Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 631-636 0141-8955 29:5<631 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer