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

Karen Lindhardt Madsen; Nicolai Preisler; Jan Rasmussen; Gitte Hedermann; Jess Have Olesen; Allan Meldgaard Lund; John Vissing

doi:10.1210/jc.2018-00953

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

Karen Lindhardt Madsen, Nicolai Preisler, Jan Rasmussen, Gitte Hedermann, Jess Have Olesen, Allan Meldgaard Lund, John Vissing

Department of Clinical Medicine

5 Citations (Scopus)

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 (U ¹³ C-palmitate and ² H ₂ -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) mmol × kg ²¹ × min ²¹ ; 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) mmol × kg ²¹ × min ²¹ ; 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 ²¹ × min ²¹ ] than during treatment [204 (SD, 84) μmol × kg ²¹ × min ²¹ ; 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.

Original language	English
Journal	The Journal of clinical endocrinology and metabolism
Volume	103
Issue number	12
Pages (from-to)	4580-4588
ISSN	0021-972X
DOIs	https://doi.org/10.1210/jc.2018-00953
Publication status	Published - 2018

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@article{1704b64c645449cba610202c3f673cf1,

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 (U 13 C-palmitate and 2 H 2 -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) mmol × kg 21 × min 21 ; 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) mmol × kg 21 × min 21 ; 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 21 × min 21 ] than during treatment [204 (SD, 84) μmol × kg 21 × min 21 ; 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",

doi = "10.1210/jc.2018-00953",

language = "English",

volume = "103",

pages = "4580--4588",

journal = "Journal of Clinical Endocrinology and Metabolism",

issn = "0021-972X",

publisher = "Oxford University Press",

number = "12",

}

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

Y1 - 2018

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 (U 13 C-palmitate and 2 H 2 -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) mmol × kg 21 × min 21 ; 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) mmol × kg 21 × min 21 ; 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 21 × min 21 ] than during treatment [204 (SD, 84) μmol × kg 21 × min 21 ; 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 (U 13 C-palmitate and 2 H 2 -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) mmol × kg 21 × min 21 ; 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) mmol × kg 21 × min 21 ; 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 21 × min 21 ] than during treatment [204 (SD, 84) μmol × kg 21 × min 21 ; 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

C2 - 30219858

SN - 0021-972X

VL - 103

SP - 4580

EP - 4588

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

IS - 12

ER -

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

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