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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)
Author(s) -
Dundar M.,
Lanyon W. G.,
Connor J. M.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711516
Subject(s) - sudden infant death syndrome , medicine , sudden death , acyl coa dehydrogenase , confidence interval , mutation , heterozygote advantage , pediatrics , compound heterozygosity , newborn screening , endocrinology , dehydrogenase , genetics , biology , gene , genotype , enzyme , biochemistry
Summary 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 mutation was found to be 1 in 276 (95% confidence interval: 1/76–1/2279) in 552 healthy controls and 1 in 74 (95% confidence interval: 1/27–1/377) in 233 SIDS patients: a difference that was not statistically significant (Fisher's exact test; two‐sided; p =0.316). None of the SIDS samples was found to be homozygous for the G985 mutation.