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Review |
1 Pediatrix Screening, PO Box 219, 90 Emerson Lane, Bridgeville, PA 15017.
aAuthor for correspondence. Fax 412-220-0784; e-mail donald_chace{at}pediatrix.com.
Background: Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific, reliable, and comprehensive than traditional assays, into their newborn-screening programs. MS/MS is rapidly replacing these one-analysis, one-metabolite, one-disease classic screening techniques with a one-analysis, many-metabolites, many-diseases approach that also facilitates the ability to add new disorders to existing newborn-screening panels.
Methods: During the past few years experts have authored many valuable articles describing various approaches to newborn metabolic screening by MS/MS. We attempted to document key developments in the introduction and validation of MS/MS screening for metabolic disorders. Our approach used the perspective of the metabolite and which diseases may be present from its detection rather than a more traditional approach of describing a disease and noting which metabolites are increased when it is present.
Content: This review cites important historical developments in the introduction and validation of MS/MS screening for metabolic disorders. It also offers a basic technical understanding of MS/MS as it is applied to multianalyte metabolic screening and explains why MS/MS is well suited for analysis of amino acids and acylcarnitines in dried filter-paper blood specimens. It also describes amino acids and acylcarnitines as they are detected and measured by MS/MS and their significance to the identification of specific amino acid, fatty acid, and organic acid disorders.
Conclusions: Multianalyte technologies such as MS/MS are suitable for newborn screening and other mass screening programs because they improve the detection of many diseases in the current screening panel while enabling expansion to disorders that are now recognized as important and need to be identified in pediatric medicine.
The following articles in journals at HighWire Press have cited this article:
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  I. Harting, E. Neumaier-Probst, A. Seitz, E. M. Maier, B. Assmann, I. Baric, M. Troncoso, C. Muhlhausen, J. Zschocke, N. P. S. Boy, et al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I Brain, July 1, 2009; 132(7): 1764 - 1782. [Abstract] [Full Text] [PDF]
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 V. R. De Jesus, X. K. Zhang, J. Keutzer, O. A. Bodamer, A. Muhl, J. J. Orsini, M. Caggana, R. F. Vogt, and W. H. Hannon Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders Clin. Chem., January 1, 2009; 55(1): 158 - 164. [Abstract] [Full Text] [PDF]
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S. Blanchard, M. Sadilek, C. R. Scott, F. Turecek, and M. H. Gelb Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I Clin. Chem., December 1, 2008; 54(12): 2067 - 2070. [Abstract] [Full Text] [PDF]
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P. E. Minkler, M. S. K. Stoll, S. T. Ingalls, S. Yang, J. Kerner, and C. L. Hoppel Quantification of Carnitine and Acylcarnitines in Biological Matrices by HPLC Electrospray Ionization- Mass Spectrometry Clin. Chem., September 1, 2008; 54(9): 1451 - 1462. [Abstract] [Full Text] [PDF]
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K. A. Pass and M. Morrissey Enhancing Newborn Screening for Tyrosinemia Type I Clin. Chem., April 1, 2008; 54(4): 627 - 629. [Full Text] [PDF]
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C. Turgeon, M. J. Magera, P. Allard, S. Tortorelli, D. Gavrilov, D. Oglesbee, K. Raymond, P. Rinaldo, and D. Matern Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots Clin. Chem., April 1, 2008; 54(4): 657 - 664. [Abstract] [Full Text] [PDF]
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U. Holtkamp, J. Klein, J. Sander, M. Peter, N. Janzen, U. Steuerwald, and O. Blankenstein EDTA in Dried Blood Spots Leads to False Results in Neonatal Endocrinologic Screening Clin. Chem., March 1, 2008; 54(3): 602 - 605. [Abstract] [Full Text] [PDF]
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M. J. Bennett Untargeted Metabolomic Analysis Hits the Target Clin. Chem., December 1, 2007; 53(12): 2037 - 2039. [Full Text] [PDF]
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Y. A. Daniel, C. Turner, R. M. Haynes, B. J. Hunt, and R. N. Dalton Quantification of Hemoglobin A2 by Tandem Mass Spectrometry Clin. Chem., August 1, 2007; 53(8): 1448 - 1454. [Abstract] [Full Text] [PDF]
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K. A. Strnadova, M. Holub, A. Muhl, G. Heinze, R. Ratschmann, H. Mascher, S. Stockler-Ipsiroglu, F. Waldhauser, F. Votava, J. Lebl, et al. Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots Clin. Chem., April 1, 2007; 53(4): 717 - 722. [Abstract] [Full Text] [PDF]
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E. Parkinson-Lawrence, M. Fuller, J. J. Hopwood, P. J. Meikle, and D. A. Brooks Immunochemistry of Lysosomal Storage Disorders Clin. Chem., September 1, 2006; 52(9): 1660 - 1668. [Abstract] [Full Text] [PDF]
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 L. Feuchtbaum, F. Lorey, L. Faulkner, J. Sherwin, R. Currier, A. Bhandal, and G. Cunningham California's Experience Implementing a Pilot Newborn Supplemental Screening Program Using Tandem Mass Spectrometry Pediatrics, May 1, 2006; 117(5/S1): S261 - S269. [Abstract] [Full Text] [PDF]
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L. Sweetman, D. S. Millington, B. L. Therrell, W. H. Hannon, B. Popovich, M. S. Watson, M. Y. Mann, M. A. Lloyd-Puryear, and P. C. van Dyck Naming and Counting Disorders (Conditions) Included in Newborn Screening Panels Pediatrics, May 1, 2006; 117(5/S1): S308 - S314. [Abstract] [Full Text] [PDF]
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J. Sander, N. Janzen, M. Peter, S. Sander, U. Steuerwald, U. Holtkamp, B. Schwahn, E. Mayatepek, F. K. Trefz, and A. M. Das Newborn Screening for Hepatorenal Tyrosinemia: Tandem Mass Spectrometric Quantification of Succinylacetone Clin. Chem., March 1, 2006; 52(3): 482 - 487. [Abstract] [Full Text] [PDF]
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 V. J. Exil, C. D. Gardner, J. N. Rottman, H. Sims, B. Bartelds, Z. Khuchua, R. Sindhal, G. Ni, and A. W. Strauss Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase Am J Physiol Heart Circ Physiol, March 1, 2006; 290(3): H1289 - H1297. [Abstract] [Full Text] [PDF]
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S. B. Narayan, R. L. Boriack, B. Messmer, and M. J. Bennett Establishing a Reference Interval For Measurement of Flux through the Mitochondrial Fatty Acid Oxidation Pathway in Cultured Skin Fibroblasts Clin. Chem., March 1, 2005; 51(3): 644 - 646. [Full Text] [PDF]
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G. L. Hortin Can Mass Spectrometric Protein Profiling Meet Desired Standards of Clinical Laboratory Practice? Clin. Chem., January 1, 2005; 51(1): 3 - 5. [Full Text] [PDF]
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Y. Li, C. R. Scott, N. A. Chamoles, A. Ghavami, B. M. Pinto, F. Turecek, and M. H. Gelb Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening Clin. Chem., October 1, 2004; 50(10): 1785 - 1796. [Abstract] [Full Text] [PDF]
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 C. Z. Minutti, J. M. Lacey, M. J. Magera, S. H. Hahn, M. McCann, A. Schulze, D. Cheillan, C. Dorche, D. H. Chace, J. F. Lymp, et al. Steroid Profiling by Tandem Mass Spectrometry Improves the Positive Predictive Value of Newborn Screening for Congenital Adrenal Hyperplasia J. Clin. Endocrinol. Metab., August 1, 2004; 89(8): 3687 - 3693. [Abstract] [Full Text] [PDF]
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 E. P. Diamandis Mass Spectrometry as a Diagnostic and a Cancer Biomarker Discovery Tool: Opportunities and Potential Limitations Mol. Cell. Proteomics, April 1, 2004; 3(4): 367 - 378. [Abstract] [Full Text] [PDF]
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