THE FREQUENCY OF A DISEASE-CAUSING POINT MUTATION IN THE GENE CODING FOR MEDIUM-CHAIN ACYL-COA DEHYDROGENASE IN SUDDEN-INFANT-DEATH-SYNDROME

A number of rare inherited metabolic disorders are known to lead to de ath in infancy. Deficiency of medium-chain acyl CoA dehydrogenase has, on clinical grounds, been related particularly to sudden infant death syndrome. The contribution of this disorder to the etiology of sudden infant death syndrome is still a matter of controversy. The present s tudy investigated 120 well-defined cases of sudden infant death syndro me in order to detect the frequency of the most common disease-causing point mutation in the gene coding for medium-chain acyl-CoA dehydroge nase (G985) compared with the frequency in the general population. A h ighly specific polymerase chain reaction assay was applied on dried bl ood spots. No over-representation of homo- or heterozygosity for G985 appears to exist in such a strictly defined population, for which reas on it may be more relevant to look at a broader spectrum of clinical p resentations of inherited metabolic disorders and examine a wider rang e of sudden death in infancy.