The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

doi:10.1007/s00439-008-0521-9

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The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Human genetics - 1 Aug 2008

Pedersen Christina B, Kølvraa Steen, Kølvraa Agnete, Stenbroen Vibeke, Kjeldsen Margrethe, Ensenauer Regina, Tein Ingrid, Matern Dietrich, Rinaldo Piero, Vianey-Saban Christine, Ribes Antonia, Lehnert Willy, Christensen Ernst, Corydon Thomas J, Andresen Brage S, Vang Søren, Bolund Lars, Vockley Jerry, Bross Peter, Gregersen Niels

Abstract excerpt

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an inherited disorder of mitochondrial fatty acid oxidation associated with variations in the ACADS gene and variable clinical symptoms. In addition to rare ACADS inactivating variations, two common variations, c.511C > T (p.Arg171Trp) and c.625G > A (p.Gly209Ser), have been identified in patients, but these are also present in up to 14% of normal...

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PMID: 18523805
DOI: 10.1007/s00439-008-0521-9

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ACADS

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