Expanded newborn screening of inborn errors of metabolism by capillary electrophoresis-electrospray ionization-mass spectrometry (CE-ESI-MS)

Methods in Molecular Biology

Volumn 919, Issue , 2013, Pages 43-56

  Britz McKibbin, Philip ^a  

^a MCMASTER UNIVERSITY   (Canada)

Author keywords

Acylcarnitines; Amino acids; Capillary electrophoresis; Dried blood spots; Electrospray ionization; Inborn errors of metabolism; Mass spectrometry; Newborn screening; Thiols

Indexed keywords

ACYLCARNITINE; AMINO ACID; BIOGENIC AMINE; DICARBOXYLIC ACID; GLUTATHIONE; INORGANIC SALT; MALEIMIDE; PEPTIDE; STABLE ISOTOPE;

ARTICLE; CAPILLARY ELECTROPHORESIS; CHEMICAL STRUCTURE; DRIED BLOOD SPOT TESTING; ELECTROSPRAY MASS SPECTROMETRY; EXPANDED NEWBORN SCREENING; GLUTATHIONE DEFICIENCY; HOMOCYSTINURIA; INBORN ERROR OF METABOLISM; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DENATURATION; REVERSED PHASE LIQUID CHROMATOGRAPHY; SOLVENT EXTRACTION; ULTRAFILTRATION; UREA CYCLE DISORDER;

EID: 84934441055     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-62703-29-8_5     Document Type: Article

References (27)

1. Levy PA (2010) An overview of newborn screening. J Dev Behav Pediat 31:622-631
2. Sweetman L (2010) Newborn screening by tandem mass spectrometry. Clin Chem 47: 1937-1938
3. Zytkovicz TH et al (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots. Clin Chem 47:1945-1955
4. Wilcken B et al (2009) Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics 124:e241-e248
5. Gurian EA et al (2006) Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117: 915-1921
6. Tarini BA, Christakis DA, Welch HG (2006) State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 117:448-456
7. Lehotay DC et al (2011) LC-MS/MS progress in newborn screening. Clin Biochem 44: 21-31
8. Farez-Vidal ME et al (2008) Multi-mutational analysis of fifteen common mutations of the glucose 6-phosphate dehydrogenase gene in the Mediterranean population. Clin Chim Acta 395:94-98
9. Srivorakun H et al (2011) Thalessemia and hemoglobinopathies in Southeast Asian newborns: diagnostic assessment using capillary electrophoresis system. Clin Biochem 44:406-411
10. Barbas C et al (2002) Evaluation of filter paper collection of urine samples for detection and measurement of organic acidurias by capillary electrophoresis. J Chromatogr B 780:73-82
11. Boulat O et al (2001) Separation of free amino acids in human plasma by capillary electrophoresis with laser induced fluorescence: potential for emergency diagnosis of inborn errors of metabolism. J Chromatogr B 754:217-228
12. Lochman P et al (2003) High-throughput capillary electrophoretic method for determination of total aminothiols in plasma and urine. Electrophoresis 24:1200-1207
13. Vernez L, Thormann W, Krahenbuhl S (2000) Analysis of carnitine and acylcarnitines in urine by capillary electrophoresis. J Chromatogr A 895:309-316
14. Friedecky D, Adam T, Bartak P (2002) Capillary electorphoresis for detection of inherited disorders of purine and pyrimidine metabolism: a selective approach. Electrophoresis 23:565-571
15. Senk P, Kozak L, Foret F (2004) Capillary electrophoresis and mass spectrometry for screening of metabolic disorders in newborns. Electrophoresis 25:1447-1456
16. Ramautar R et al (2011) CE-MS for metabolomics: developments and applications in the period 2008-2010. Electrophoresis 32: 52-65
17. Maxwell EJ, Zhong X, Chen DDY (2010) Asymmetrical emitter geometries for increased range of stable electrospray flow rates. Anal Chem 82:8377-8381
18. Haselberg R et al (2010) Performance of a sheathless porous tip sprayer for capillary electrophoresis-electrospray ionization-mass spectrometry of intact proteins. J Chromatogr A 1217:7605-7611
19. Desiderio C et al (2010) Capillary electrophoresis-mass spectormetry for the analysis of amino acids. J Sep Sci 33:2385-2393
20. Deng Y, Henion J (2001) Chip-based capillary electrophoresis/mass spectrometry determination of carnitines in human urine. Anal Chem 73:639-646
21. Desiderio C et al (2008) Optimization of a rapid capillary electrophoresis ESI-IT tandem mass spectrometry method for the analysis of short-chain carnitines in human plasma. Anal Bioanal Chem 390:1637-1644
22. Chalcraft KR, Britz-McKibbin P (2009) Newborn screening of inborn errors of metabolism by CE-ESI-MS: a second-tier method with improved specificity and sensitivity. Anal Chem 81:307-314
23. Lee R, Niewzcas L, Britz-McKibbin P (2007) Integrative metabolomics for characterizing unknown low-abundance metabolites by capillary electrophoresis-mass spectrometry with computer simulations. Anal Chem 79:403-415
24. D'Agostino LA et al (2011) Comprehensive plasma thiol redox status determination for metabolomics. J Proteome Res 10:592-603
25. Chalcraft KR et al (2009) Virtual quantification of metabolites by capillary electrophoresis electrospray ionization-mass spectrometry: predicting ionization efficiency without chemical standards. Anal Chem 81:2506-2515
26. Gan-Schreier H et al (2010) Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr 156:427-432
27. Lee R, Britz-McKibbin P (2009) Differential rates of glutathione oxidation for assessment of cellular redox status and antioxidant capacity by capillary electrophoresis-mass spectrometry: an elusive biomarker of oxidative stress. Anal Chem 81:7047-7056