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

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

9 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 languageEnglish
Title of host publicationJIMD Reports
EditorsJohannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
Place of PublicationBerlin, Heidelberg
PublisherSpringer Berlin Heidelberg
Pages103-111
Number of pages9
Volume20
ISBN (Print)978-3-662-46700-8
DOIs
Publication statusPublished - 1 Jan 2015

Keywords

  • oral supplementation
  • free carnitine
  • Faroe Islands
  • Carnitine level
  • renal reabsorption

Fingerprint

Dive into the research topics of 'Carnitine Levels in Skeletal Muscle, Blood, and Urine in Patients with Primary Carnitine Deficiency During Intermission of l-Carnitine Supplementation'. Together they form a unique fingerprint.

Cite this