title: Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.
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.
authors.affiliation: Hôpital Beaujon, Clichy, France.
authors.forename: B
authors.initials: B
authors.lastname: Fromenty
authors.forename: A
authors.initials: A
authors.lastname: Mansouri
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: F
authors.initials: F
authors.lastname: Courtois
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.lastname: PessayreD
mesh_terms: D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005602:France; D009154:Mutation
chemical_list: D004247:DNA; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase