A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders

2014 ◽  
Vol 28 (8) ◽  
pp. 1131-1139 ◽  
Author(s):  
Antonina Gucciardi ◽  
Elisa Legnini ◽  
Iole Maria Di Gangi ◽  
Carlo Corbetta ◽  
Rosella Tomanin ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Column Switching ◽  
Multiplex Assay ◽  
Lysosomal Storage Disorders ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Lysosomal Storage ◽  
Storage Disorders

scholarly journals Implementation of Second-Tier Tests in Newborn Screening for Lysosomal Disorders in North Eastern Italy

2019 ◽  
Vol 5 (2) ◽  
pp. 24 ◽  
Author(s):  
Alberto B. Burlina ◽  
Giulia Polo ◽  
Laura Rubert ◽  
Daniela Gueraldi ◽  
Chiara Cazzorla ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Lysosomal Storage Diseases ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Lysosomal Disorders ◽  
North Eastern ◽  
Second Tier

The increasing availability of treatments and the importance of early intervention have stimulated interest in newborn screening for lysosomal storage diseases. Since 2015, 112,446 newborns in North Eastern Italy have been screened for four lysosomal disorders—mucopolysaccharidosis type I and Pompe, Fabry and Gaucher diseases—using a multiplexed tandem mass spectrometry (MS/MS) assay system. We recalled 138 neonates (0.12%) for collection of a second dried blood spot. Low activity was confirmed in 62 (0.06%), who underwent confirmatory testing. Twenty-five neonates (0.02%) were true positive: eight with Pompe disease; seven with Gaucher disease; eight with Fabry disease; and two with Mucopolysaccharidosis type I. The combined incidence of the four disorders was 1 in 4497 births. Except for Pompe disease, a second-tier test was implemented. We conclude that newborn screening for multiple lysosomal storage diseases combined with a second-tier test can largely eliminate false-positives and achieve rapid diagnosis.

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

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening

2019 ◽  
Vol 211 ◽  
pp. 193-200.e2 ◽  
Author(s):  
Jennifer L. Taylor ◽  
Kristin Clinard ◽  
Cynthia M. Powell ◽  
Catherine Rehder ◽  
Sarah P. Young ◽  
...  
Keyword(s):  
North Carolina ◽  
Newborn Screening ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
The North
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