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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244 Citations
Highly Influential Citations
9
Background Citations
39
Methods Citations
13
Results Citations
8

244 Citations

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Citation Type

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
TLDR
Simultaneously determining multiple enzyme activities by MS/MS, with a focus on specific biochemical markers, successfully detected newborns with LSDs.
Newborn Screening for Lysosomal Storage Disorders in Belgium: The Importance of Sex- and Age-Dependent Reference Ranges
TLDR
A pilot study was performed to test the appropriateness and effectiveness of the newborn screening method for Pompe disease, Fabry disease and mucopolysaccharidosis (MPS) I in dried blood spots using liquid chromatography–tandem mass spectrometry.
Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry
TLDR
The data indicate that the mass spectrometry methodology can be used for the screening of lysosomal storage diseases in non-newborn patients, however, for some diseases, such as Fabry and mucopolysaccharidosis I, a combination of biochemical and clinical data may be necessary to achieve accurate diagnoses.
Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri.
First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.
Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy
TLDR
It is concluded that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study
TLDR
Standardized management for FD found during newborn mass screening, including an ERT regimen, remains to be established because the numbers are higher than those previously anticipated.
Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
Newborn screening for lysosomal storage diseases.
TLDR
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.
Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
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References

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Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.
TLDR
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.
Simplified newborn screening protocol for lysosomal storage disorders.
TLDR
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.
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
TLDR
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.
Prevalence of lysosomal storage disorders.
TLDR
There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia.
Newborn screening for neuropathic lysosomal storage disorders
TLDR
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
The results suggest that the later-onset phenotype of Fabry disease is underdiagnosed among males with cardiac, cerebrovascular, and/or renal disease and raises ethical issues related to when screening should be performed--in the neonatal period or at early maturity, perhaps in conjunction with screening for other treatable adult-ONSet disorders.
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.
TLDR
DBS QC materials for newborn screening of LSDs were developed and evaluated and suitable QC materials may be used by screening laboratories that perform LSD analysis by MS and/or more conventional fluorescence-based screening methods.
High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population
TLDR
An unexpected high prevalence of the cardiac variant Fabry mutation IVS4+919G→A among both newborns and patients with idiopathic hypertrophic cardiomyopathy in the Taiwan Chinese population is found.
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
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