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Article

Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.

Lancet (London, England) - 31 Aug 1991

Matsubara Y, Narisawa K, Tada K, Ikeda H, Yao Y Q, Danks D M, Green A, McCabe E R

Abstract excerpt

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder that has been associated with sudden infant death syndrome and a condition resembling Reye's syndrome. The point mutation K329E is thought to be the commonest mutation causing MCAD deficiency in caucasian patients. The prevalence of this mutation was determined by use of dried blood spots on Guthrie cards obtained during...

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PMID: 1678810
DOI: 10.1016/0140-6736(91)91110-g

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