title: Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.
abstract: 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 gamma-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.
authors.affiliation: Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
authors.forename: H H
authors.initials: HH
authors.lastname: Huidekoper
authors.forename: J
authors.initials: J
authors.lastname: Schneider
authors.forename: T
authors.initials: T
authors.lastname: Westphal
authors.forename: F M
authors.initials: FM
authors.lastname: Vaz
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: F A
authors.initials: FA
authors.lastname: Wijburg
mesh_terms: D042964:Acyl-CoA Dehydrogenase / Q000172:deficiency* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism*; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood / Q000378:metabolism / Q000494:pharmacology*; D002648:Child; D019587:Dietary Supplements; D015444:Exercise; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D013997:Time Factors
chemical_list: D005227:Fatty Acids; C116917:acylcarnitine; D042964:Acyl-CoA Dehydrogenase; D002331:Carnitine