E-resources
-
Scott, C. Ronald, MD; Elliott, Susan, BS; Buroker, Norman, PhD; Thomas, Lauren I., MS; Keutzer, Joan, PhD; Glass, Michael, MS; Gelb, Michael H., PhD; Turecek, Frantisek, PhD
The Journal of pediatrics, 08/2013, Volume: 163, Issue: 2Journal Article
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 diagnosis for Fabry, Pompe, or MPS-I, by DNA sequencing estimated the prevalence of Fabry disease at 1/7800 males (95% CI 1/17 800-1/3600); Pompe disease at 1/27 800 newborns (95% CI 1/90 000-1/10 200); and MPS-I at 1/35 500 newborns (95% CI 1/143 000-1/11 100). These estimates of prevalence are 2 to 4 times greater than the prevalence estimated by clinical diagnosis. The combined prevalence for the 3 disorders was 1/7500 newborns (95% CI 1/13 500-1/4500). Conclusions MS/MS for the simultaneous assay of multiple lysosomal enzymes can be successfully introduced into a routine newborn screening laboratory. The technology has a positive predictive value equal to, or better, than methods currently used for the detection of nonlysosomal disorders. Using newborn blood spots, the combined prevalence of Fabry, Pompe, and MPS-I is estimated at 1/7500 newborns based on low-enzyme activity and confirmation by mutation analysis.
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.