doi: 10.1007/BF02185775.
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France
Affiliations
- PMID: 8786085
- DOI: 10.1007/BF02185775
Item in Clipboard
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France
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.
Similar articles
-
A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).Am J Hum Genet. 1993 Sep;53(3):730-9. Am J Hum Genet. 1993. PMID: 8102510 Free PMC article.
-
Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.Eur J Pediatr. 1992 Mar;151(3):154-9. doi: 10.1007/BF01954373. Eur J Pediatr. 1992. PMID: 1601002 Review.
-
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.Biochem Biophys Res Commun. 1990 Aug 31;171(1):498-505. doi: 10.1016/0006-291x(90)91421-n. Biochem Biophys Res Commun. 1990. PMID: 2393404
-
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.J Clin Invest. 1994 Oct;94(4):1477-83. doi: 10.1172/JCI117486. J Clin Invest. 1994. PMID: 7929823 Free PMC article.
-
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.Scand J Clin Lab Invest Suppl. 1995;220:9-25. Scand J Clin Lab Invest Suppl. 1995. PMID: 7652482 Review.
Cited by
-
Adult presentation of MCAD deficiency revealed by coma and severe arrythmias.Intensive Care Med. 2003 Sep;29(9):1594-7. doi: 10.1007/s00134-003-1871-3. Epub 2003 Aug 1. Intensive Care Med. 2003. PMID: 12897989
-
Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice.Sci Rep. 2019 Oct 10;9(1):14539. doi: 10.1038/s41598-019-50758-0. Sci Rep. 2019. PMID: 31601874 Free PMC article.
-
Escherichia coli exonuclease III enhances long PCR amplification of damaged DNA templates.Nucleic Acids Res. 2000 Jun 1;28(11):E50. doi: 10.1093/nar/28.11.e50. Nucleic Acids Res. 2000. PMID: 10871349 Free PMC article.
-
Establishment of age- and -gender specific reference intervals for amino acids and acylcarnitines by tandem mass spectrometry in Turkish paediatric population.Biochem Med (Zagreb). 2023 Oct 15;33(3):030704. doi: 10.11613/BM.2023.030704. Biochem Med (Zagreb). 2023. PMID: 37841769 Free PMC article.
-
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.Arch Dis Child. 1998 Aug;79(2):116-9. doi: 10.1136/adc.79.2.116. Arch Dis Child. 1998. PMID: 9797590 Free PMC article.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
