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)


DÜNDAR M. , Lanyon W., Connor J.

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.16, ss.991-993, 1993 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 16 Konu: 6
  • Basım Tarihi: 1993
  • Doi Numarası: 10.1007/bf00711516
  • Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
  • Sayfa Sayısı: ss.991-993

Özet

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.