MOST CASES OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY ESCAPE DETECTION IN FRANCE

DNA from 414 French blood donors from the Paris area was assessed for the A985G mutation responsible for most cases of autosomal recessive m edium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The mutant gene frequency averaged 1/140, predicting a frequency of mutant homozygotes of 1/19 000. Discrepancy between the numbers of expected (42 per year ) and recorded cases of MCAD (6 per year) suggests that most MCAD-defi cient patients escape detection in France.