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. 1996 Mar;97(3):367-8.
doi: 10.1007/BF02185775.

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

B Fromenty  1 , A Mansouri, J P Bonnefont, F Courtois, A Munnich, D Rabier, PessayreD
Affiliations

Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France

B Fromenty et al. Hum Genet. 1996 Mar.

Abstract

DNA from 414 French blood donors from the Paris area was assessed for the A985G mutation responsible for most cases of autosomal recessive medium-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-deficient patients escape detection in France.

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