Article
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.
Molecular genetics and metabolism - 1 Apr 2003
Nagan Narasimhan, Kruckeberg Kent E, Tauscher Angela L, Bailey Karen Snow, Rinaldo Piero, Matern Dietrich
Abstract excerpt
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a clinically heterogeneous disorder. The clinical phenotype varies from fatal metabolic decompensation in early life to subtle adult onset, some patients remain asymptomatic. Two mutations (511C>T; 625G>A) have been described in exons 5 and 6 of the SCAD gene. Although they alter the structural and catalytic properties of the SCAD protein, these variants are...
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