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Article

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

Human genetics - 1 Mar 1996

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

Abstract excerpt

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. Dis...

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PMID: 8786085
DOI: 10.1007/BF02185775

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8786085-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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