The frequency of MCAD mutation (K329E) in the Finnish population

Abstract

Sir: Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency is an autosomal recessive disorder of mitochondrial betaoxidation of fatty acids. This disorder has been described in cases of sudden infant death (SID). In 1971 R~is~-aen et al. [1] reported in a Finnish family two siblings with hepatic steatosis, and studies of a subsequently born affected sibling… (More)
DOI: 10.1007/BF02029369

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