Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

J. Rasmussen; J. A. Thomsen; J. H. Olesen; T. M. Lund; M. Mohr; J. Clementsen; O. W. Nielsen; A. M. Lund

doi:10.1007/8904_2014_398

Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

J. Rasmussen, J. A. Thomsen, J. H. Olesen, T. M. Lund, M. Mohr, J. Clementsen, O. W. Nielsen, A. M. Lund

Deildin fyri heilsu- og sjúkrarøktarvísindi - Faculty of Health Sciences

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

14 Citations (Scopus)

Abstract

Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed severe symptoms in the Faroese patient cohort. In this study, we investigated carnitine levels in skeletal muscle, plasma, and urine as well as renal elimination kinetics before and after intermission with l-carnitine in patients homozygous for c.95A>G.

Original language	English
Title of host publication	JIMD Reports
Editors	Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
Place of Publication	Berlin, Heidelberg
Publisher	Springer Berlin Heidelberg
Pages	103-111
Number of pages	9
Volume	20
ISBN (Print)	978-3-662-46700-8
DOIs	https://doi.org/10.1007/8904_2014_398
Publication status	Published - 1 Jan 2015

Keywords

oral supplementation
free carnitine
Faroe Islands
Carnitine level
renal reabsorption

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10.1007/8904_2014_398

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375125/

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Rasmussen, J., Thomsen, J. A., Olesen, J. H., Lund, T. M., Mohr, M., Clementsen, J., Nielsen, O. W., & Lund, A. M. (2015). Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation. In J. Zschocke, M. Baumgartner, E. Morava, M. Patterson, S. Rahman, & V. Peters (Eds.), JIMD Reports (Vol. 20, pp. 103-111). Springer Berlin Heidelberg. https://doi.org/10.1007/8904_2014_398

Rasmussen, J. ; Thomsen, J. A. ; Olesen, J. H. et al. / Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation. JIMD Reports. editor / Johannes Zschocke ; Matthias Baumgartner ; Eva Morava ; Marc Patterson ; Shamima Rahman ; Verena Peters. Vol. 20 Berlin, Heidelberg : Springer Berlin Heidelberg, 2015. pp. 103-111

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abstract = "Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed severe symptoms in the Faroese patient cohort. In this study, we investigated carnitine levels in skeletal muscle, plasma, and urine as well as renal elimination kinetics before and after intermission with l-carnitine in patients homozygous for c.95A>G.",

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Rasmussen, J, Thomsen, JA, Olesen, JH, Lund, TM, Mohr, M, Clementsen, J, Nielsen, OW & Lund, AM 2015, Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation. in J Zschocke, M Baumgartner, E Morava, M Patterson, S Rahman & V Peters (eds), JIMD Reports. vol. 20, Springer Berlin Heidelberg, Berlin, Heidelberg, pp. 103-111. https://doi.org/10.1007/8904_2014_398

Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation. / Rasmussen, J.; Thomsen, J. A.; Olesen, J. H. et al.
JIMD Reports. ed. / Johannes Zschocke; Matthias Baumgartner; Eva Morava; Marc Patterson; Shamima Rahman; Verena Peters. Vol. 20 Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. p. 103-111.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

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AU - Rasmussen, J.

AU - Thomsen, J. A.

AU - Olesen, J. H.

AU - Lund, T. M.

AU - Mohr, M.

AU - Clementsen, J.

AU - Nielsen, O. W.

AU - Lund, A. M.

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AB - Background: Primary carnitine deficiency (PCD) is a disorder of fatty acid oxidation with a high prevalence in the Faroe Islands. Only patients homozygous for the c.95A>G (p.N32S) mutation have displayed severe symptoms in the Faroese patient cohort. In this study, we investigated carnitine levels in skeletal muscle, plasma, and urine as well as renal elimination kinetics before and after intermission with l-carnitine in patients homozygous for c.95A>G.

KW - oral supplementation

KW - free carnitine

KW - Faroe Islands

KW - Carnitine level

KW - renal reabsorption

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A2 - Rahman, Shamima

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PB - Springer Berlin Heidelberg

CY - Berlin, Heidelberg

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Rasmussen J, Thomsen JA, Olesen JH, Lund TM, Mohr M, Clementsen J et al. Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation. In Zschocke J, Baumgartner M, Morava E, Patterson M, Rahman S, Peters V, editors, JIMD Reports. Vol. 20. Berlin, Heidelberg: Springer Berlin Heidelberg. 2015. p. 103-111 doi: 10.1007/8904_2014_398

Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation

Abstract

Keywords

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