Article
Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study.
Orphanet journal of rare diseases - 25 May 2012
Touw Catharina M L, Smit G Peter A, de Vries Maaike, de Klerk Johannis B C, Bosch Annet M, Visser Gepke, Mulder Margot F, Rubio-Gozalbo M Estela, Elvers Bert, Niezen-Koning Klary E, Wanders Ronald J A, Waterham Hans R, Reijngoud Dirk-Jan, Derks Terry G J
Abstract excerpt
BACKGROUND: Since the introduction of medium-chain acyl coenzyme A dehydrogenase (MCAD) deficiency in population newborn bloodspot screening (NBS) programs, subjects have been identified with variant ACADM (gene encoding MCAD enzyme) genotypes that have never been identified in clinically ascertained patients. It could be hypothesised that residual MCAD enzyme activity can contribute in risk stratification of...
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