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l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

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@article{ffdf02a3f5614e07bd87245f47e7b1e7,
title = "l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency",
abstract = "Context: 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.Objective: To investigate energy metabolism during exercise in patients with PCD with and without l-carnitine treatment.Design: Interventional study.Setting: Hospital exercise laboratories and department of cardiology.Participants: Eight adults with PCD who were homozygous for the c.95A>G (p.N32S) mutation and 10 healthy age- and sex-matched controls.Intervention: Four-day pause in l-carnitine treatment.Main outcome measures: 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.Results: 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) .Conclusions: 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.",
author = "Madsen, {Karen Lindhardt} and Nicolai Preisler and Jan Rasmussen and Gitte Hedermann and Olesen, {Jess Have} and Lund, {Allan Meldgaard} and John Vissing",
year = "2018",
month = "12",
day = "1",
doi = "10.1210/jc.2018-00953",
language = "English",
volume = "103",
pages = "4580--4588",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The/Endocrine Society",
number = "12",

}

RIS

TY - JOUR

T1 - l-Carnitine Improves Skeletal Muscle Fat Oxidation in Primary Carnitine Deficiency

AU - Madsen, Karen Lindhardt

AU - Preisler, Nicolai

AU - Rasmussen, Jan

AU - Hedermann, Gitte

AU - Olesen, Jess Have

AU - Lund, Allan Meldgaard

AU - Vissing, John

PY - 2018/12/1

Y1 - 2018/12/1

N2 - Context: 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.Objective: To investigate energy metabolism during exercise in patients with PCD with and without l-carnitine treatment.Design: Interventional study.Setting: Hospital exercise laboratories and department of cardiology.Participants: Eight adults with PCD who were homozygous for the c.95A>G (p.N32S) mutation and 10 healthy age- and sex-matched controls.Intervention: Four-day pause in l-carnitine treatment.Main outcome measures: 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.Results: 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) .Conclusions: 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.

AB - Context: 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.Objective: To investigate energy metabolism during exercise in patients with PCD with and without l-carnitine treatment.Design: Interventional study.Setting: Hospital exercise laboratories and department of cardiology.Participants: Eight adults with PCD who were homozygous for the c.95A>G (p.N32S) mutation and 10 healthy age- and sex-matched controls.Intervention: Four-day pause in l-carnitine treatment.Main outcome measures: 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.Results: 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) .Conclusions: 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.

U2 - 10.1210/jc.2018-00953

DO - 10.1210/jc.2018-00953

M3 - Journal article

VL - 103

SP - 4580

EP - 4588

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 12

ER -

ID: 55677641