Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

2010 ◽  
Vol 2010 ◽  
pp. 351-352
Author(s):  
M.G. Bissell
Keyword(s):  
Quality Control ◽  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Dried Blood Spot ◽  
Lysosomal Storage ◽  
Blood Spot ◽  
Storage Disorders

scholarly journals Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

2009 ◽  
Vol 55 (1) ◽  
pp. 158-164 ◽  
Author(s):  
Victor R De Jesus ◽  
X Kate Zhang ◽  
Joan Keutzer ◽  
Olaf A Bodamer ◽  
Adolf Mühl ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Newborn Screening ◽  
Goodness Of Fit ◽  
Internal Standard ◽  
Lysosomal Storage Disorders ◽  
Dried Blood Spot ◽  
Screening Methods ◽  
Lysosomal Storage ◽  
Blood Spot ◽  
Storage Disorders

Abstract Background: Lysosomal storage disorders (LSDs) comprise more than 40 genetic diseases that result in the accumulation of products that would normally be degraded by lysosomal enzymes. A tandem mass spectrometry (MS/MS)-based method is available for newborn screening for 5 LSDs, and many laboratories are initiating pilot studies to evaluate the incorporation of this method into their screening panels. We developed and evaluated dried blood spot (DBS) QC materials for LSDs and used the MS/MS method to investigate their suitability for LSD QC monitoring. Methods: We incubated 3.2-mm punches from DBS controls for 20–24 h with assay cocktails containing substrate and internal standard. Using MS/MS, we quantified the resulting product and internal standard. Samples were run in triplicate for 3 consecutive days, and results were reported as product-to-internal standard ratios and enzyme activity units (μmol/L/h). Results: Enzyme activity interday imprecision (CV) for the high, medium, and low series were 3.4%–14.3% for galactocerebroside α-galactosidase, 6.8%–24.6% for acid α-galactosidase A, 7.36%–22.1% for acid sphingomyelinase, 6.2%–26.2% for acid α-glucocerebrosidase, and 7.0%–24.8% for lysosomal acid α-glucosidase (n = 9). In addition, DBS stored at −20° and 4 °C showed minimal enzyme activity loss over a 187-d period. DBS stored at 37° and 45 °C had lower activity values over the 187-day evaluation time. Conclusions: Suitable QC materials for newborn screening of LSDs were developed for laboratories performing DBS LSD screening. Good material linearity was observed, with goodness-of-fit values of 0.953 and higher. The QC materials may be used by screening laboratories that perform LSD analysis by MS and/or more conventional fluorescence-based screening methods.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

2011 ◽  
Vol 104 (1-2) ◽  
pp. 144-148 ◽  
Author(s):  
Arnold J. Reuser ◽  
Frans W. Verheijen ◽  
Deeksha Bali ◽  
Otto P. van Diggelen ◽  
Dominique P. Germain ◽  
...  
Keyword(s):  
Lysosomal Storage Disorders ◽  
Dried Blood Spot ◽  
Current Status ◽  
Lysosomal Storage ◽  
Blood Spot ◽  
Storage Disorders

scholarly journals Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

2018 ◽  
Vol 4 (12) ◽  
pp. 1688-1696 ◽  
Author(s):  
Philipp Skrinjar ◽  
Markus Schwarz ◽  
Stefan Lexmüller ◽  
Thomas P. Mechtler ◽  
Maximilian Zeyda ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Modular Assembly ◽  
Storage Disorders

Newborn screening for lysosomal storage disorders

2006 ◽  
Vol 88 (4) ◽  
pp. 307-314 ◽  
Author(s):  
Peter J. Meikle ◽  
Dallas J. Grasby ◽  
Caroline J. Dean ◽  
Debbie L. Lang ◽  
Michelle Bockmann ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Lysosomal Storage Disorders ◽  
Lysosomal Storage ◽  
Storage Disorders
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