Article
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Molecular genetics and metabolism - 1 Jul 2010
Smith Emily H, Thomas Cheryl, McHugh David, Gavrilov Dimitar, Raymond Kimiyo, Rinaldo Piero, Tortorelli Silvia, Matern Dietrich, Highsmith W Edward, Oglesbee Devin
Abstract excerpt
Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. Over a 5-year period, sequencing all 12 exons of the MCAD gene (ACADM) in our laboratory revealed a total of 54 variants in 549 subjects analyzed. As most molecular ACADM testing is referred for the follow-up of an abnormal newborn...
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