Article
Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS).
Journal of inherited metabolic disease - 1 Jan 1993
Dundar M, Lanyon W G, Connor J M
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, is an autosomal recessive inborn error of metabolism associated with various clinical presentations, including sudden unexplained death in young children. We have determined the Scottish frequency of the common G985 mutation found in Caucasians and in samples from Scottish patients with sudden infant death syndrome (SIDS). The heterozygote frequency of the...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Adult
- Base Sequence
- Female
- Gene Frequency
- Genetic Carrier Screening
- Humans
- Infant
- Infant, Newborn
- Molecular Sequence Data
