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Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Dietrich Matern1, Devin Oglesbee, Silvia Tortorelli

  • 1Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. matern@mayo.edu

Developmental Disabilities Research Reviews
|June 26, 2013
PubMed

Insights

Newborn screening (NBS) identifies treatable conditions in newborns, preventing lifelong disabilities. This review covers 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia for potential NBS inclusion.

Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • Newborn screening (NBS) is crucial for early detection of treatable congenital disorders.
  • Current NBS panels in the US cover at least 29 conditions, with ongoing proposals for expansion.
  • Advancements in treatment and high-throughput testing drive the inclusion of new conditions.

Purpose of the Study:

  • To review the current status of newborn screening for specific neurological and metabolic disorders.
  • To assess the feasibility and evidence supporting the inclusion of these conditions in NBS programs.

Main Methods:

  • Literature review of current NBS practices and research.
  • Analysis of proposed conditions for NBS, focusing on neuronopathic components.
  • Evaluation of pilot studies and screening test performance metrics.

Main Results:

  • Focus on 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.
  • Some conditions are already in national/international screening programs.
  • Others are in pilot studies to evaluate test performance.

Conclusions:

  • NBS is expanding to include conditions with significant neuronopathic effects.
  • Early detection and intervention are key to preventing mortality, morbidity, and disability.
  • Continued research and pilot studies are essential for informed NBS expansion.

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