Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening

Methods in Molecular Biology

Volumn 359, Issue , 2007, Pages 143-157

  Tureček, František ^a   Scott, C Ronald ^a   Gelb, Michael H ^a  

^a NONE

Author keywords

Biochemical diagnosis; Clinical chemistry; Enzyme assays; Lysosomal storage diseases; Mucopolysaccharidosis; Multiple reaction monitoring; Tandem mass spectrometry

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BLOOD; CHEMICAL STRUCTURE; HUMAN; INBORN ERROR OF METABOLISM; METHODOLOGY; MIDDLE AGED; NEWBORN; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY;

ADOLESCENT; ADULT; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; MIDDLE AGED; MOLECULAR STRUCTURE; NEONATAL SCREENING; TANDEM MASS SPECTROMETRY;

EID: 34250327134     PISSN: 10643745     EISSN: None     Source Type: Book Series    
DOI: 10.1385/1-59745-255-6:143     Document Type: Article

References (18)

1. Koeberl, D. D., Young, S. P., Gregersen, N. S., et al. (2003) Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry. Pediatr. Res. 54, 219-223.
2. Stevens, R. D., Hillman, S. L., Worthy, S., Sanders, D., and Millington, D. S. (2000) Assay for free and total carnitine in human plasma using tandem mass spectrometry. Clin. Chem. 46, 727-729.
3. Fauler, G., Leis, H. J., Huber, E., et al. (1997) Determination of homovanillic acid and vanillylmandelic acid in neuroblastoma screening by stable isotope dilution GC-MS. J. Mass Spectrom. 32, 507-514.
4. Cole, R. B. (ed.) (1997) Electrospray Ionization Mass Spectrometry. Fundamentals, Instrumentation and Applications, Wiley-Interscience, New York.
5. Busch, K. L., Glish, G. L., and McLuckey, S. A. (eds.) (1988) Mass Spectrometry/Mass Spectrometry: Techniques and Applications of Tandem Mass Spectrometry, VCH Publishers, New York.
6. Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D. (eds.) (2001) Lysosomal Storage Disorders. In: The Metabolic & Molecular Bases of Inherited Disease, 8th Ed., McGraw-Hill, New York, Part 16, pp. 3371-3896.
7. Sandhoff, K., Kolter, T., and Harzer, K. (2001) Sphingolipid activator proteins. In: The Metabolic & Molecular Bases of Inherited Disease, 8th Ed., (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds.) McGraw-Hill, New York, pp. 3371-3375.
8. Neufeld, E. F. and Muenzer, J. (2001) The mucopolysaccharidoses. In: The Metabolic & Molecular Bases of Inherited Disease, 8th Ed., (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D., eds.) McGraw-Hill, New York, pp. 3421-3426.
9. Gerber, S. A., Scott, C. R., Tureček, F., and Gelb, M. H. (1999) Analysis of rates of multiple enzymes in cell lysates by electrospray ionization mass spectrometry. J. Am, Chem. Soc. 121, 1102-1104.
10. Tureček, F. (2002) Mass spectrometry in coupling with affinity capture-release and isotope-coded affinity tags for quantitative protein analysis. J. Mass Spectrom. 37, 1-14.
11. Gerber, S.A., Scott, C. R., Tureček, F., and Gelb, M. H. (2001) Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry. Anal. Chem. 73, 1651-1657.
12. Zhou, X.-F., Tureček, F., Scott, C. R., and Gelb, M. H. (2001) Quantitation of cellular acid sphingomyelinase and galactocerebroside β-galactosidase activities by electrospray ionization mass spectrometry. Clin. Chem. 45, 874-881.
13. Li, Y., Ogata, Y., Freeze, H. H., Scott, C. R., Tureček, F., and Gelb, M. H. (2003) Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation yypes Ia and Ib. Anal. Chem. 75, 42-48.
14. Li, Y., Scott, C. R., Chamoles, N. A., et al. (2004) Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin. Chem. 50, 1785-1796.
15. Li, Y., Brockmann, K., Tureček, F., Scott, C. R., and Gelb, M. H. (2004) Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin. Chem. 50, 638-640.
16. For the nomenclature of mass spectrometric techniques, see the Mass Spectrometry Terms and Definitions Project at http://www.msterms.com/wiki/ index.
17. Wang, D., Eadala, B., Sadilek, M., et al. (2005) Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns. Clin. Chem. 51, 898-900.
18. Dacie, J. V. and Lewis, S. M. (1984) Practical Haematology, 6th Ed., Churchill Livingstone, Edinburgh, Scotland, pp. 9.