Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Dietrich Matern, Devin Oglesbee, Silvia Tortorelli

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Newborn screening (NBS) is a public health program aimed at identifying treatable conditions in presymptomatic newborns to avoid premature mortality, morbidity, and disabilities. Currently, every newborn in the Unites States is screened for at least 29 conditions where evidence suggests that early detection is possible and beneficial. With new or improved treatment options and development of high-throughput screening tests, additional conditions have been proposed for inclusion into NBS programs. Among those are several conditions with a strong neuronopathic component. Some of these conditions have already been added to a few national and international screening programs, whereas others are undergoing pilot studies to determine the test performance metrics. Here, we review the current state of NBS for 13 lysosomal storage disorders, X-adrenoleukodystrophy, Wilson disease, and Friedreich ataxia.

Original languageEnglish (US)
Pages (from-to)247-253
Number of pages7
JournalDevelopmental Disabilities Research Reviews
Issue number3
StatePublished - Jun 2013


  • Dried blood spots
  • Immuno-quantification
  • Lysosomal storage disorder
  • Newborn screening
  • Peroxisomal disorders
  • Tandem mass spectrometry

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health


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