TY - JOUR

T1 - Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands

AU - Rasmussen, Jan

AU - Nielsen, Olav W

AU - Janzen, Nils

AU - Duno, Morten

AU - Gislason, Hannes

AU - Køber, Lars

AU - Steuerwald, Ulrike

AU - Lund, Allan M

PY - 2014/3

Y1 - 2014/3

N2 - 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).

AB - 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).

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Cardiomyopathies

KW - Carnitine

KW - Child

KW - Child, Preschool

KW - Denmark

KW - Dried Blood Spot Testing

KW - Female

KW - Genetic Testing

KW - Genotype

KW - Humans

KW - Hyperammonemia

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Mass Screening

KW - Middle Aged

KW - Muscular Diseases

KW - Young Adult

U2 - 10.1007/s10545-013-9606-2

DO - 10.1007/s10545-013-9606-2

M3 - Journal article

C2 - 23653224

VL - 37

SP - 215

EP - 222

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 2

ER -