Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

@article{Corydon2001RoleOC,
  title={Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency},
  author={Morten Juhl Corydon and Jerry Vockley and Piero Rinaldo and William James Rhead and Margrethe Kjeldsen and Vibeke Winter and Charles W. Riggs and Dusica Babovic-Vuksanovic and Jan A M Smeitink and Jan G. N. de Jong and Harvey Levy and Adrian Clive Sewell and Charles L. Roe and Dietrich Matern and Majed J. Dasouki and N. Gregersen},
  journal={Pediatric Research},
  year={2001},
  volume={49},
  pages={18-23}
}
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients have been reported, diagnosed on the basis of ethylmalonic aciduria and low SCAD activity in cultured fibroblast. However, mild ethylmalonic aciduria, a biochemical marker of functional SCAD deficiency in vivo, is a common finding in patients suspected of having metabolic disorders. Based on previous observations, we have proposed that… CONTINUE READING
44 Extracted Citations
31 Extracted References
Similar Papers

Citing Papers

Publications influenced by this paper.
Showing 1-10 of 44 extracted citations

Referenced Papers

Publications referenced by this paper.
Showing 1-10 of 31 references

Clinical and biochemical features of fatty acid oxidation disorders

  • P Rinaldo, K Raymond, A al Odaib, MJ Bennett
  • Curr Opin Pediatr
  • 1998
1 Excerpt

Homo sapiens SCAD gene, 5 9-UTR and exon 1 to 10 (European Molecular Biology Laboratory/GenBank/DNA Data Bank of Japan; nucleotide sequence database accession no Z80345

  • MJ Corydon, BS Andresen, +5 authors N Gregersen
  • 1997
1 Excerpt

Similar Papers

Loading similar papers…