title: [Carnitine transporter deficiency is a hereditary disease with a high incidence in the Faroe Islands].
abstract: The Faroe Islands has a high incidence of carnitine transporter deficiency (CTD) and several other autosomal recessive diseases. This article describes the reason for the high frequency, in view of the Faroese history and the diagnosis of CTD. Few individuals founded the Faroese population in the 9th century, and subsequent geographic isolation limited genetic diversity in the Islands.
authors.affiliation: Klinisk Genetisk Afdeling, Juliane Marie Centret, Rigshospitalet, Denmark. nfv379@alumni.ku.dk
authors.forename: Sissal Djurhuus
authors.initials: SD
authors.lastname: Poulsen
authors.forename: Allan Meldgaard
authors.initials: AM
authors.lastname: Lund
authors.forename: Ernst
authors.initials: E
authors.lastname: Christensen
authors.forename: Flemming
authors.initials: F
authors.lastname: Skovby
mesh_terms: D000328:Adult; D002331:Carnitine / Q000097:blood / Q000172:deficiency*; D002648:Child; D003718:Denmark / Q000453:epidemiology; D018703:Founder Effect; D014644:Genetic Variation; D006801:Humans; D027701:Organic Cation Transport Proteins / Q000235:genetics; D015995:Prevalence; D000074058:Solute Carrier Family 22 Member 5; D014804:Vitamin B Deficiency / Q000453:epidemiology / Q000235:genetics*
chemical_list: D027701:Organic Cation Transport Proteins; C492020:SLC22A5 protein, human; D000074058:Solute Carrier Family 22 Member 5; D002331:Carnitine