Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

ABSTRACT:

Objective

To assess the performance of a tandem mass spectrometry (MS/MS) technology in a newborn screening laboratory to simultaneously measure α-galactosidase, acid-α-glucosidase, and α-L-iduronidase for the detection of infants at risk to develop Fabry, Pompe, or mucopolysaccharidosis (MPS)-I diseases.

Study design

Enzyme activity was assayed from a 3.2-mm punch from 100,000+ anonymous newborn blood spots. Punches with low enzyme activity were further evaluated by nucleotide sequence analysis of the responsible gene. Confirmation of affected infants was dependent on identification of mutations compatible with diminished enzyme activity.

Results

The technology for simultaneously measuring multiple enzyme activities by MS/MS was successful. The confirmation of diagno

SUBMITTER: Scott CR 

PROVIDER: S-EPMC3725184 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature