Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Separate and Combined Effects of GIP and GLP-1 Infusions on Bone Metabolism in Overweight Men without Diabetes

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Characterization of Human Adrenal Steroidogenesis during Fetal Development

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Long-Term Outcome in Patients With Heart Failure Treated With Levothyroxine: An Observational Nationwide Cohort Study

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Molecular mechanisms in skeletal muscle underlying insulin resistance in lean women with polycystic ovary syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Familial Hypercholesterolemia and Risk of Peripheral Arterial Disease and Chronic Kidney Disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Congenital myopathies are mainly associated with a mild cardiac phenotype

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Muscle contractility of leg muscles in patients with mitochondrial myopathies

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Refining the spinobulbar muscular atrophy phenotype by quantitative MRI and clinical assessments

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Paternal comeback in mitochondrial DNA inheritance

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalThe Journal of clinical endocrinology and metabolism
Volume103
Issue number12
Pages (from-to)4580-4588
Number of pages9
ISSN0021-972X
DOIs
Publication statusPublished - 1 Dec 2018

ID: 55677641