[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency].

Abstract

The Faeroe Islands has a high incidence of glycogen storage disease type III A, carnitine transporter deficiency and holocarboxylase synthetase deficiency. In the article the incidence, symptoms and gene mutations for these three inborn errors of metabolism are reviewed both in general and in specific for children in the Faeroe Islands. None of the mutations for the three diseases is particularly frequent, but all children in the Faeroe Islands with one of the three metabolic diseases are homozygous for one specific mutation, which must be due to a founder effect.

• Authors: Frodi Joensen, Elisabeth Ulrike Steuerwald, Niels H Rasmussen
• Journal: Ugeskrift for laeger (Ugeskr Laeger) Vol. 168 Issue 7 Pg. 667-70 (Feb 13 2006) ISSN: 1603-6824 [Electronic] Denmark
• Vernacular Title: Tre medfødte metaboliske sygdomme på Faerøerne. Incidens, klinisk og molekylaergenetisk karakteristik af faeroske born med glykogen transportdefekt type IIIA, karnitintransporterdefekt og holocarboxylasesyntetasedefekt.
• PMID: 16494802 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Carnitine

Topics

• Adult
• Carnitine (deficiency)
• Child
• Child, Preschool
• Denmark (epidemiology)
• Female
• Glycogen Storage Disease Type III (epidemiology, genetics)
• Holocarboxylase Synthetase Deficiency (epidemiology, genetics)
• Humans
• Incidence
• Infant
• Infant, Newborn
• Male
• Metabolism, Inborn Errors (epidemiology, genetics)
• Mutation