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• W2891997623 abstract "Primary carnitine deficiency (PCD) is an inborn error of fatty acid metabolism. Patients with PCD are risk for sudden heart failure upon fasting or illness if they are not treated with daily l-carnitine. To investigate energy metabolism during exercise in patients with PCD with and without l-carnitine treatment. Interventional study. Hospital exercise laboratories and department of cardiology. Eight adults with PCD who were homozygous for the c.95A>G (p.N32S) mutation and 10 healthy age- and sex-matched controls. Four-day pause in l-carnitine treatment. Total fatty acid and palmitate oxidation rates during 1-hour submaximal cycle ergometer exercise assessed with stable isotope method (U13C-palmitate and 2H2-d-glucose) and indirect calorimetry with and without l-carnitine. Total fatty acid oxidation rate was higher in patients with l-carnitine treatment during exercise than without treatment [12.3 (SD, 3.7) vs 8.5 (SD, 4.6) µmol × kg−1 × min−1; P = 0.008]. However, the fatty acid oxidation rate was still lower in patients treated with l-carnitine than in the healthy controls [29.5 (SD, 10.1) µmol × kg−1 × min−1; P < 0.001] and in the l-carnitine group without treatment it was less than one third of that in the healthy controls (P < 0.001). In line with this, the palmitate oxidation rates during exercise were lower in the no-treatment period [144 (SD, 66) µmol × kg−1 × min−1] than during treatment [204 (SD, 84) µmol × kg−1 × min−1; P = 0.004) . The results indicate that patients with PCD have limited fat oxidation during exercise. l-Carnitine treatment in asymptomatic patients with PCD may not only prevent cardiac complications but also boost skeletal muscle fat metabolism during exercise." @default.
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• W2891997623 date "2018-09-13" @default.
• W2891997623 modified "2023-10-08" @default.
• W2891997623 title "L-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency" @default.
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• W2891997623 doi "https://doi.org/10.1210/jc.2018-00953" @default.
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