Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years

Research output: Contribution to journal › Journal article › Research › peer-review

Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl CoA dehydrogenase deficiency, which is inherited in an autosomal recessive mode. No over-representation of either homozygous or heterozygous cases was found.
Original languageEnglish
JournalJournal of Clinical Pathology
Volume50
Issue number4
Pages (from-to)212-7
Number of pages6
ISSN1366-8714
Publication statusPublished - Aug 1997

    Research areas

  • Acyl-CoA Dehydrogenase, Acyl-CoA Dehydrogenases, Cell Culture Techniques, Child, Preschool, Fatty Acids, Female, Fibroblasts, Heterozygote, Humans, Infant, Infant, Newborn, Lipid Metabolism, Inborn Errors, Male, Oxidation-Reduction, Point Mutation, Prospective Studies, Sudden Infant Death

ID: 46809982