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Journal of Inherited Metabolic Disease

Published in:

01-03-2014 | Original Article

Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

Authors: Jan Rasmussen, Olav W. Nielsen, Nils Janzen, Morten Duno, Lars Køber, Ulrike Steuerwald, Allan M. Lund

Published in: Journal of Inherited Metabolic Disease | Issue 2/2014

Abstract

Background

Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation and has been associated to episodes of sudden death in the Faroe Islands. Data are presented from the nationwide population based Faroese screening program to find people with low carnitine levels indicating PCD.

Methods

Whole blood samples from dried blood spots were analysed by tandem mass spectrometry with and without butylation. Genetic analyses were performed in all people with non-butylated free carnitine (fC0) below 7 μmol/L.

Results

55 % (n = 26,462) of the entire population was screened and 89 PCD patients were identified, yielding an overall prevalence of 1:297 of PCD in the Faroe Islands. Carnitine levels were positively correlated to age in both males and females (p < 0.003) although levels decreased in females when reaching fertile age. The gender difference in mean carnitine levels was significant during female fertile age (4.71 μmol/L fC0 in the age group 25–30 years, p < 0.01). A lower cut-off of 5 μmol/L in fC0 identified all homozygous for the severe genotype c.95A > G (p.N32S) (n = 20).

Conclusion

Carnitine levels differ by gender and age. A lower cut-off of 5 μmol/L in fC0 was appropriate to identify c.95A > G homozygotes. The prevalence of PCD in the Faroe Islands is the highest reported in the world (1:297).

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Title: Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands
Authors: Jan Rasmussen
Olav W. Nielsen
Nils Janzen
Morten Duno
Lars Køber
Ulrike Steuerwald
Allan M. Lund
Publication date: 01-03-2014
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 2/2014
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-013-9606-2

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Abstract

Background

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