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

Thomas P Mechtler1, Susanne Stary, Thomas F Metz

  • 1Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

Lancet (London, England)
|December 3, 2011
PubMed

Insights

Newborn screening for lysosomal storage disorders (LSDs) is feasible, identifying 15 affected infants. The high prevalence of late-onset mutations highlights LSDs as a significant health concern beyond childhood.

Area of Science:

  • Biochemistry
  • Genetics
  • Neonatal Medicine

Background:

  • Growing interest in neonatal screening for LSDs due to new therapies and diagnostic advances.
  • Need for early diagnosis and assessment of screening practicality for specific LSDs.

Purpose of the Study:

  • To assess the practicality and appropriateness of including Gaucher's disease, Pompe's disease, Fabry's disease, and Niemann-Pick disease types A and B in neonatal screening panels.
  • To evaluate the feasibility of nationwide newborn screening for LSDs using genetic mutation analysis.

Main Methods:

  • Analysis of dried blood spots from 34,736 newborns using electrospray ionization tandem mass spectrometry for enzyme activities.
  • Genetic mutation analyses performed on samples with suspected enzyme deficiencies.

Main Results:

  • Successful analysis of all samples; 15 infants diagnosed with LSDs.
  • Fabry's disease (1:3859), Pompe's disease (1:8684), and Gaucher's disease (1:17,368) were the most frequent.
  • Predominantly missense mutations associated with late-onset phenotypes were identified.

Conclusions:

  • The overall proportion of infants carrying mutations for LSDs was higher than anticipated.
  • Neonatal screening for LSDs presents challenges for primary healthcare providers.
  • The prevalence of late-onset mutations indicates LSDs are a broad health issue extending beyond childhood.
Abstract

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