Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening |
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Authors: | Nennstiel-Ratzel Uta Arenz Stephan Maier Esther M Knerr Ina Baumkötter Joachim Röschinger Wulf Liebl Bernhard Hadorn Hans-Beat Roscher Adelbert A von Kries Rüdiger |
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Affiliation: | Screening Center of the Bavarian Health and Food Safety Authority,Oberschleissheim, Germany. |
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Abstract: | The incidence of severe metabolic crises in medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients homozygous for the common c.985A>G mutation, who had been identified by neonatal screening, was assessed prospectively and compared to retrospective cohort data in unscreened patients with identical genotypes. Logrank test showed a significant reduction of severe metabolic crises in the screened cohort (p<0.01). Neonatal screening appears to reduce the rate of severe metabolic crisis or death in the most prevalent subset of MCADD. |
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