Newborn screening for lysosomal storage diseases.

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

SUBMITTER: Gelb MH 

PROVIDER: S-EPMC4345406 | biostudies-literature | 2015 Feb

REPOSITORIES: biostudies-literature