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Review
. 2015 Feb;61(2):335-46.
doi: 10.1373/clinchem.2014.225771. Epub 2014 Dec 4.

Newborn screening for lysosomal storage diseases

Michael H Gelb  1 , C Ronald Scott  2 , Frantisek Turecek  3
Affiliations
Review

Newborn screening for lysosomal storage diseases

Michael H Gelb et al. Clin Chem. 2015 Feb.

Abstract

Background: There is worldwide interest in newborn screening for lysosomal storage diseases because of the development of treatment options that give better results when carried out early in life. Screens with high differentiation between affected and nonaffected individuals are critical because of the large number of potential false positives.

Content: This review summarizes 3 screening methods: (a) direct assay of enzymatic activities using tandem mass spectrometry or fluorometry, (b) immunocapture-based measurement of lysosomal enzyme abundance, and (c) measurement of biomarkers. Assay performance is compared on the basis of small-scale studies as well as on large-scale pilot studies of mass spectrometric and fluorometric screens.

Summary: Tandem mass spectrometry and fluorometry techniques for direct assay of lysosomal enzymatic activity in dried blood spots have emerged as the most studied approaches. Comparative mass spectrometry vs fluorometry studies show that the former better differentiates between nonaffected vs affected individuals. This in turn leads to a manageable number of screen positives that can be further evaluated with second-tier methods.

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Conflict of interest statement

Authors’ Disclosures or Potential Conflicts of Interest: Upon manuscript submission, all authors completed the author disclosure form. Disclosures and/or potential conflicts of interest:

Figures

Fig. 1
Fig. 1
Natural, MS/MS and fluorimetric substrates for Niemann-Pick-A/B disease.
See this image and copyright information in PMC

References

    1. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill; 2001.
    1. Boustany RM. Lysosomal storage diseases: the horizon expands. Nature Rev Neurol. 2013;9:583–598. - PubMed
    1. Ohashi T. Enzyme replacement therapy for lysosomal storage diseases. Pediatr Endocrinol Rev. 2012;10(Suppl 1):26–34. - PubMed
    1. Lund TC. Hematopoietic stem cell transplant for lysosomal storage diseases. Pediatr Endocrinol Rev. 2013;11(Suppl 1):91–98. - PubMed
    1. Weinreb NJ. Oral small molecule therapy for lysosomal storage diseases. Pediatr Endocrinol Rev. 2013;11(Suppl 1):77–90. - PubMed

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