Is l-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

Jákup Andreas Thomsen, Allan Meldgaard Lund, Jess Have Olesen, Magni Mohr, Jan Rasmussen

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

8 Citations (Scopus)


Abstract Background: 3-Methylcrotonyl-CoA carboxylase
deficiency (3-MCCd) is an autosomal recessive disorder in
the catabolism of leucine. In the present study, we
investigated the current and prior medical condition of
patients with 3-MCCd in the Faroe Islands and their
carnitine levels in blood, urine and muscle tissue with and
without L-carnitine supplementation to evaluate the current
treatment strategy of not recommending L-carnitine supplementation to Faroese 3-MCCd patients.
Methods: Blood and urine samples and muscle biopsies
were collected from patients at inclusion and at 3 months.
Eight patients received L-carnitine supplementation when
recruited; five did not. Included patients who received
supplementation were asked to stop L-carnitine, the others
were asked to initiate L-carnitine supplementation during
the study. Symptoms were determined by review of hospital
medical records and questionnaires answered at baseline
and after the intervention.
Results: The prevalence of 3-MCCd in the Faroe Islands
was 1:2,400, the highest reported worldwide. All patients
were homozygous for the MCCC1 mutation c.1526delG.
When not administered L-carnitine, the 3-MCCd patients
(n ¼ 13) had low plasma and muscle free carnitine levels,
6.9 (SD 1.4) mmol/L and 785 (SD 301) nmol/g wet weight,
respectively. L-Carnitine supplementation increased muscle
and plasma carnitine levels to a low-normal range, 25.5 (SD
10.9) mmol/L and 1,827 (SD 523) nmol/g wet weight,
p < 0.01, respectively. Seven of the thirteen 3-MCCd
subjects suffered from self-reported fatigue with some
alleviation after L-carnitine supplementation.
Conclusion: 3-MCCd is common in the Faroe Islands.
Some symptomatic 3-MCCd patients may benefit biochemically and clinically from L-carnitine supplementation, a
more general recommendation cannot be given.
Original languageEnglish
Title of host publicationJIMD Reports
Subtitle of host publicationVolume 21
EditorsJohannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman, Verena Peters
Place of PublicationBerlin, Heidelberg
PublisherSpringer Berlin Heidelberg
Number of pages10
ISBN (Print)978-3-662-47172-2
Publication statusPublished - 2015


  • 3-Methylcrotonyl-CoA carboxylase deficiency
  • 3-MCCd
  • Carnitine level
  • Faroe Islands


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