Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

@article{Mechtler2012NeonatalSF,
  title={Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria},
  author={Thomas P. Mechtler and Susanne Stary and Thomas F. Metz and V{\'i}ctor R. De Jes{\'u}s and Susanne Greber-Platzer and Arnold Pollak and Kurt R. Herkner and Berthold Streubel and David C Kasper},
  journal={The Lancet},
  year={2012},
  volume={379},
  pages={335-341}
}
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TLDR
Simultaneously determining multiple enzyme activities by MS/MS, with a focus on specific biochemical markers, successfully detected newborns with LSDs.
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Newborn screening for lysosomal storage diseases.
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Comparative mass spectrometry vs fluorometry studies show that the former better differentiates between nonaffected vs affected individuals, which leads to a manageable number of screen positives that can be further evaluated with second-tier methods.
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The modified multiplex enzyme assay with premixed S and IS is appropriate for use in high-throughput screening laboratories and shows higher precision than the original method.
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Turboflow online sample cleanup and the use of an additional analytical column enabled the implementation of lysosomal storage disorder testing in a nationwide screening program while keeping the total analysis time to <2 min per sample.
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These guidelines serve as an educational resource for confirmatory testing and subsequent clinical management of presymptomatic indivduals suspected to have a lysosomal storage disease and help to define a research agenda for longitudinal studies such as the American College of Medical Genetics/National Institutes of Health Newborn Screening Translational Research Network.
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The ability to predict phenotypes (neuronopathic or not) by enzyme activity and genotyping will therefore be critical for adequate patient management.
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TLDR
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