Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients.

Medium Chain Acyl CoA Dehydrogenase (MCAD) deficiency is the most common genetic disorder of fatty acid metabolism and has been reported as a cause of sudden death in infants. We investigated the incidence of a rare MCAD mutation (G583A) in a large population of SIDS patients. A method utilising PCR mediated site directed mutagenesis and restriction enzyme digestion was devised to enable rapid and simple testing of large numbers of samples. The G583A mutation was not detected in 413 SIDS patients tested suggesting the mutation is not an important cause of sudden death in infants. The prevalence of this mutation in the general population was estimated to be between 0 and 0.89%.