Newborn screening for lysosomal storage disorders

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

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

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
Volume39
Issue number3
DOIs
StatePublished - Apr 1 2015

Fingerprint

Gaucher Disease
Type B Niemann-Pick Disease
Globoid Cell Leukodystrophy
Mucopolysaccharidosis II
Glycogen Storage Disease Type II
Mucopolysaccharidosis I
Fabry Disease

Keywords

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

ASJC Scopus subject areas

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

Cite this

Matern, D., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Tortorelli, S. (2015). Newborn screening for lysosomal storage disorders. Seminars in Perinatology, 39(3), 206-216. https://doi.org/10.1053/j.semperi.2015.03.005

Newborn screening for lysosomal storage disorders. / Matern, Dietrich; Gavrilov, Dimitar; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Tortorelli, Silvia.

In: Seminars in Perinatology, Vol. 39, No. 3, 01.04.2015, p. 206-216.

Research output: Contribution to journalArticle

Matern, D, Gavrilov, D, Oglesbee, D, Raymond, K, Rinaldo, P & Tortorelli, S 2015, 'Newborn screening for lysosomal storage disorders', Seminars in Perinatology, vol. 39, no. 3, pp. 206-216. https://doi.org/10.1053/j.semperi.2015.03.005
Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Seminars in Perinatology. 2015 Apr 1;39(3):206-216. https://doi.org/10.1053/j.semperi.2015.03.005
Matern, Dietrich ; Gavrilov, Dimitar ; Oglesbee, Devin ; Raymond, Kimiyo ; Rinaldo, Piero ; Tortorelli, Silvia. / Newborn screening for lysosomal storage disorders. In: Seminars in Perinatology. 2015 ; Vol. 39, No. 3. pp. 206-216.
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