Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry

2003 ◽  
Vol 348 (23) ◽  
pp. 2304-2312 ◽  
Author(s):  
Bridget Wilcken ◽  
Veronica Wiley ◽  
Judith Hammond ◽  
Kevin Carpenter
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Inborn Errors Of Metabolism ◽  
Tandem Mass ◽  
Inborn Errors

scholarly journals Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study

2016 ◽  
Vol 23 (3) ◽  
pp. 124-129 ◽  
Author(s):  
Fayza A Hassan ◽  
Fatma El-Mougy ◽  
Sahar A Sharaf ◽  
Iman Mandour ◽  
Marian F Morgan ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Pilot Study ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Inborn Errors Of Metabolism ◽  
Tandem Mass ◽  
Inborn Errors

scholarly journals Comprehensive Screening of Urine Samples for Inborn Errors of Metabolism by Electrospray Tandem Mass Spectrometry

2002 ◽  
Vol 48 (11) ◽  
pp. 1970-1980 ◽  
Author(s):  
James J Pitt ◽  
Mary Eggington ◽  
Stephen G Kahler
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Inborn Errors Of Metabolism ◽  
Multiple Reaction Monitoring ◽  
Direct Injection ◽  
Negative Ion ◽  
Screening Methods ◽  
Tandem Mass ◽  
Inborn Errors ◽  
Ion Analysis

Abstract Background: Detection of abnormal metabolites in urine is important for the diagnosis of many inborn errors of metabolism (IEM). Rapid, comprehensive screening methods are needed. Methods: We used electrospray ionization tandem mass spectrometry in positive- and negative-ion modes to detect selected metabolites in urine. For positive-ion analysis, samples were dried and butylated, whereas for negative-ion analysis, samples were merely diluted with the mobile phase. Analysis was by direct injection with multiple reaction monitoring for 32 metabolites in positive mode (amino acids and acylcarnitines) and 30 metabolites in negative mode (organic acids). Run time was 2.1 min in each mode. Results: Interbatch CVs ranged from 4.8% to 32%, enabling quantification of many metabolites. The procedure was applied to controls (278 and 120 in positive- and negative-ion mode, respectively) and 108 IEM individuals representing 37 different IEM. In 105 IEM individuals, representing 36 different IEM, concentrations of one or more diagnostic metabolites were above the 99th percentiles of the control values. Conclusions: The procedure is faster and less labor-intensive than conventional methods of testing for IEM by amino and organic acid profiling and has similar diagnostic sensitivity. The ability to include a greater range of metabolites offers the potential of a more comprehensive screening procedure.

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: A 5year report

2014 ◽  
Vol 47 (9) ◽  
pp. 823-828 ◽  
Author(s):  
Laila A. Selim ◽  
Sawsan Abdel-Hady Hassan ◽  
Fadia Salem ◽  
Azza Orabi ◽  
Fayza A. Hassan ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Inborn Errors Of Metabolism ◽  
Tandem Mass ◽  
Selective Screening ◽  
Inborn Errors ◽  
Egyptian Children

scholarly journals An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0134782 ◽  
Author(s):  
Kittiphong Thiboonboon ◽  
Pattara Leelahavarong ◽  
Duangrurdee Wattanasirichaigoon ◽  
Nithiwat Vatanavicharn ◽  
Pornswan Wasant ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Economic Evaluation ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Tandem Mass ◽  
Inborn Errors
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