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New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS)

Published on Jan 1, 2019
· DOI :10.1007/978-1-4939-9213-3_10
Meera Shanmuganathan4
Estimated H-index: 4
(McMaster University),
Philip Britz-McKibbin26
Estimated H-index: 26
(McMaster University)
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Abstract
  • References (47)
  • Citations (1)
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References47
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#1Sandi Azab (McMaster University)H-Index: 1
#2Ritchie Ly (McMaster University)H-Index: 2
Last. Philip Britz-McKibbin (McMaster University)H-Index: 26
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High-throughput screening methods for fatty acid (FA) determination are urgently needed due to their critical biochemical roles in human health while serving as biomarkers of habitual diet and chronic disease risk assessment. Herein, we introduce multisegment injection-nonaqueous-capillary electrophoresis-mass spectrometry (MSI-NACE-MS) as a multiplexed separation platform for analysis of more than 20 nonesterified FAs in human serum or plasma. Optimization of experimental conditions was require...
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Cystic fibrosis (CF) is a complex multiorgan disorder that is among the most common fatal genetic diseases benefiting from therapeutic interventions early in life. Newborn screening (NBS) for presymptomatic detection of CF currently relies on a two-stage immunoreactive trypsinogen (IRT) and cystic fibrosis transmembrane conductance regulator (CFTR) mutation panel algorithm that is sensitive but not specific for identifying affected neonates with a low positive predictive value. For the first tim...
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Background Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, a...
16 CitationsSource
The sweat chloride test remains the gold standard for confirmatory diagnosis of cystic fibrosis (CF) in support of universal newborn screening programs. However, it provides ambiguous results for intermediate sweat chloride cases while not reflecting disease progression when classifying the complex CF disease spectrum given the pleiotropic effects of gene modifiers and environment. Herein we report the first characterization of the sweat metabolome from screen-positive CF infants and identify me...
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#1Olav Klingenberg (Oslo University Hospital)H-Index: 7
#2Torill Furuset (Oslo University Hospital)H-Index: 1
Last. Jens P. Berg (Oslo University Hospital)H-Index: 27
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AbstractBackground: Haemoglobin A1c (HbA1c) has become an even more important analyte for clinical laboratories during recent years with the introduction of its diagnostic use for diabetes mellitus. Several different analytical principles can be used, each with their advantages and disadvantages.Aim: We wanted to compare Sebia Capillarys 2 Flex Piercing (Capillarys) with our routine HbA1c methods, which were an HPLC method (Tosoh G7) and an immunoassay (Tina-Quant on Roche Modular P) by analysin...
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#1Alicia DiBattistaH-Index: 4
#2Nathan McIntoshH-Index: 5
Last. Philip Britz-McKibbinH-Index: 26
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Mass spectrometry (MS)-based metabolomic initiatives that use conventional separation techniques are limited by low sample throughput and complicated data processing that contribute to false discoveries. Herein, we introduce a new strategy for unambiguous identification and accurate quantification of biomarkers for inborn errors of metabolism (IEM) from dried blood spots (DBS) with quality assurance. A multiplexed separation platform based on multisegment injection-capillary electrophoresis-mass...
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#1Elizabeth H. Peuchen (ND: University of Notre Dame)H-Index: 7
#2Guije Zhu (ND: University of Notre Dame)H-Index: 1
Last. Norman J. Dovichi (ND: University of Notre Dame)H-Index: 42
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Capillary zone electrophoresis-electrospray ionization-mass spectrometry (CZE-ESI-MS) is attracting renewed attention for proteomic and metabolomic analysis. An important reason for this interest is the maturation and commercialization of interfaces for coupling CZE with ESI-MS. One of these interfaces is an electro-kinetically pumped sheath flow nanospray interface developed by the Dovichi group, in which a very low sheath flow is generated based on electroosmosis within a glass emitter. CMP Sc...
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#1Rawi Ramautar (LEI: Leiden University)H-Index: 29
#2Govert W. Somsen (VU: VU University Amsterdam)H-Index: 38
Last. Gerhardus J. de Jong (UU: Utrecht University)H-Index: 37
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Abstract Capillary electrophoresis-mass spectrometry (CE-MS) can be considered a useful analytical technique for the global profiling of (highly) polar and charged metabolites in various samples. Over the past few years, significant advancements have been made in CE-MS approaches for metabolomics studies. In this paper, which is a follow-up of a previous review paper covering the years 2012-2014 (Electrophoresis 2015, 36, 212-224), recent CE-MS strategies developed for metabolomics covering the ...
36 CitationsSource
#1Mai YamamotoH-Index: 2
#2Ritchie LyH-Index: 2
Last. Philip Britz-McKibbinH-Index: 26
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Capillary electrophoresis-mass spectrometry (CE-MS) represents a high efficiency microscale separation platform for untargeted profiling of polar/ionic metabolites that is ideal for volume-restricted biological specimens with minimal sample workup. Despite these advantages, the long-term stability of CE-MS remains a major obstacle hampering its widespread application in metabolomics notably for routine analysis of anionic metabolites under negative ion mode conditions. Herein, we report for the ...
19 CitationsSource
#1Amir Prior (VU: VU University Amsterdam)H-Index: 3
#2Radu-Cristian Moldovan (University of Liège)H-Index: 4
Last. Govert W. Somsen (VU: VU University Amsterdam)H-Index: 38
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Abstract The sensitivity of coupled enantioselective capillary electrophoresis-mass spectrometry (CE-MS) of amino acids (AAs) is often hampered by the chiral selectors in the background electrolyte (BGE). A new method is presented in which the use of a chiral selector is circumvented by employing (+)-1-(9-fluorenyl)ethyl chloroformate (FLEC) as chiral AA derivatizing agent and ammonium perfluorooctanoate (APFO) as a volatile pseudostationary phase for separation of the formed diastereomers. Effi...
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#1Alexander P. Petrov (ND: University of Notre Dame)H-Index: 1
#2Lindy M. Sherman (ND: University of Notre Dame)H-Index: 1
Last. Norman J. Dovichi (ND: University of Notre Dame)H-Index: 42
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Abstract Although databases are available that provide mass spectra and chromatographic retention information for small-molecule metabolites, no publicly available database provides electrophoretic mobility for common metabolites. As a result, most compounds found in electrophoretic-based metabolic studies are unidentified and simply annotated as “features”. To begin to address this issue, we analyzed 460 metabolites from a commercial library using capillary zone electrophoresis coupled with ele...
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#1Arvind KumarH-Index: 105
#1KumarAjayH-Index: 14
Last. Nilesh Kumar SharmaH-Index: 10
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Background: In recent, various human health disorders including cancer, diabetes, neurodegenerative and metabolic diseases are noticed among human populations. Currently, genetic and proteomic approaches are highly reported to detect metabolic disorders that also include inborn error of metabolisms. These existing detection methods are faced with cost issue and time consuming factors. Therefore, metabolites as biomarkers are one of potential avenues to detect metabolic disorders. Further, exploi...
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