Article
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
Archives of disease in childhood. Fetal and neonatal edition - 1 Sept 2001
Carpenter K, Wiley V, Sim K G, Heath D, Wilcken B
Abstract excerpt
OBJECTIVE: To evaluate newborn screening by tandem mass spectrometry for detection of medium chain acyl-CoA dehydrogenase (MCAD) deficiency, a fatty acid oxidation disorder with significant mortality in undiagnosed patients. DESIGN: The following were studied: (a) 13 clinically detected MCAD deficient subjects, most homozygous for the common A985G mutation, whose newborn screening sample was available; (b) 275...
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