Newborn screening for lysosomal storage disorders

Dietrich Matern, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli

Research output: Contribution to journalReview articlepeer-review

64 Scopus citations


Every newborn in the U.S. is screened for at least 29 disorders, 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 in newborn screening programs. Among those are several lysosomal storage disorders that have been evaluated in limited pilot studies or that are already included in a few national or international newborn screening programs. These conditions include Pompe disease, Niemann-Pick type A/B disease, Fabry disease, Krabbe disease, Mucopolysaccharidoses types I and II, and Gaucher disease. Here, we review the current state of newborn screening for these lysosomal storage disorders.

Original languageEnglish (US)
Pages (from-to)206-216
Number of pages11
JournalSeminars in Perinatology
Issue number3
StatePublished - Apr 1 2015


  • Dried blood spots
  • Immunoquantification
  • Lysosomal storage disorders
  • Newborn screening
  • Tandem mass spectrometry

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology


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