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Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France |
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| Authors: | Bernard Fromenty Abdellah Mansouri Jean-Paul Bonnefont Francoise Courtois Arnold Munnich Daniel Rabier Dominique Pessayre |
| Institution: | (1) Hôpital Beaujon, INSERM U 24, F-92118 Clichy, France;(2) Hôpital des Enfants Malades, INSERM U 393, F-75743 Paris Cedex 15, France;(3) Centre de Transfusion Sanguine, Hôpital Beaujon, F-92118 Clichy, France;(4) Biochimie Génétique, Hôpital des Enfants Malades, F-75743 Paris Cedex 15, 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. |
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