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Neo Gen Screening, 110 Roessler Rd., Suite 200 D, Pittsburgh, PA 15220.
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Mass Spectrometry Facility, Division of Medical
Genetics, Department of Pediatrics, Duke University Medical Center, Box
14991, Research Triangle Park, NC 27709.
a Author for correspondence. Fax 412-341-8926; e-mail dhchace{at}Neogenscreening.com
We report the application of tandem mass spectrometry to prospective newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. MCAD deficiency is diagnosed from dried blood spots on filter paper cards from newborns on the basis of the increase of medium chain length acylcarnitines identified by isotope dilution mass spectrometry methods. A robust and accurate semiautomated method for the analysis of medium chain length acylcarnitines as their butyl esters was developed and validated. Quantitative data from the analyses of 113 randomly collected filter paper blood spots from healthy newborns showed low concentrations of medium chain length acylcarnitines such as octanoylcarnitine. The maximum concentration of octanoylcarnitine was 0.22 µmol/L, with the majority being at or below the detection limit. In all 16 blood spots from newborns with confirmed MCAD deficiency, octanoylcarnitine was highly increased [median 8.4 µmol/L (range 3.1–28.3 µmol/L)], allowing easy detection. The concentration of octanoylcarnitine was significantly higher in these 16 newborns (<3 days of age) than in 16 older patients (ages 8 days to 7 years) with MCAD deficiency (median 1.57 µmol/L, range 0.33–4.4). The combined experience of prospective newborn screening in Pennsylvania and North Carolina has shown a disease frequency for MCAD deficiency of 1 in 17 706. No false-positive and no known false-negative results have been found. A validated method now exists for prospective newborn screening for MCAD deficiency.
The following articles in journals at HighWire Press have cited this article:
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  C. Loughrey and M. J Bennett Screening for MCAD deficiency in newborns BMJ, March 26, 2009; 338(mar26_1): b971 - b971. [Full Text]
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 S. E Reuter, A. M Evans, D. H Chace, and G. Fornasini Determination of the reference range of endogenous plasma carnitines in healthy adults Ann Clin Biochem, November 1, 2008; 45(6): 585 - 592. [Abstract] [Full Text] [PDF]
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 H.-W. Hsu, T. H. Zytkovicz, A. M. Comeau, A. W. Strauss, D. Marsden, V. E. Shih, G. F. Grady, and R. B. Eaton Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening Pediatrics, May 1, 2008; 121(5): e1108 - e1114. [Abstract] [Full Text] [PDF]
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 H. Bishop Hubbard Policy Issues Related to Expanded Newborn Screening: A Review of Three Genetic/Metabolic Disorders Policy Politics Nursing Practice, August 1, 2007; 8(3): 201 - 209. [Abstract] [PDF]
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 S. Ho, Z. Lukacs, G. F. Hoffmann, M. Lindner, and T. Wetter Feature Construction Can Improve Diagnostic Criteria for High-Dimensional Metabolic Data in Newborn Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency Clin. Chem., July 1, 2007; 53(7): 1330 - 1337. [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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C. I. Kaye and and the Committee on Genetics Newborn Screening Fact Sheets Pediatrics, September 1, 2006; 118(3): e934 - e963. [Abstract] [Full Text] [PDF]
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B. A. Tarini, D. A. Christakis, and H. G. Welch State Newborn Screening in the Tandem Mass Spectrometry Era: More Tests, More False-Positive Results Pediatrics, August 1, 2006; 118(2): 448 - 456. [Abstract] [Full Text] [PDF]
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D. S. Millington Newborn Screening for Lysosomal Storage Disorders Clin. Chem., May 1, 2005; 51(5): 808 - 809. [Full Text] [PDF]
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C. T. Cavedon, P. Bourdoux, K. Mertens, H. V. Van Thi, N. Herremans, C. de Laet, and P. Goyens Age-Related Variations in Acylcarnitine and Free Carnitine Concentrations Measured by Tandem Mass Spectrometry Clin. Chem., April 1, 2005; 51(4): 745 - 752. [Abstract] [Full Text] [PDF]
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R. Rej Clinical Chemistry through Clinical Chemistry: A Journal Timeline Clin. Chem., December 1, 2004; 50(12): 2415 - 2458. [Abstract] [Full Text] [PDF]
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D. H. Chace, T. A. Kalas, and E. W. Naylor Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns Clin. Chem., November 1, 2003; 49(11): 1797 - 1817. [Abstract] [Full Text] [PDF]
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L. N. Venditti, C. P. Venditti, G. T. Berry, P. B. Kaplan, E. M. Kaye, H. Glick, and C. A. Stanley Newborn Screening by Tandem Mass Spectrometry for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A Cost-Effectiveness Analysis Pediatrics, November 1, 2003; 112(5): 1005 - 1015. [Abstract] [Full Text] [PDF]
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A. Schulze, M. Lindner, D. Kohlmuller, K. Olgemoller, E. Mayatepek, and G. F. Hoffmann Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications Pediatrics, June 1, 2003; 111(6): 1399 - 1406. [Abstract] [Full Text] [PDF]
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 M. J. Khoury, L. L. McCabe, and E. R.B. McCabe Population Screening in the Age of Genomic Medicine N. Engl. J. Med., January 2, 2003; 348(1): 50 - 58. [Full Text] [PDF]
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L. Sweetman Newborn Screening by Tandem Mass Spectrometry: Gaining Experience Clin. Chem., November 1, 2001; 47(11): 1937 - 1938. [Full Text] [PDF]
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T. H. Zytkovicz, E. F. Fitzgerald, D. Marsden, C. A. Larson, V. E. Shih, D. M. Johnson, A. W. Strauss, A. M. Comeau, R. B. Eaton, and G. F. Grady Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots: A Two-Year Summary from the New England Newborn Screening Program Clin. Chem., November 1, 2001; 47(11): 1945 - 1955. [Abstract] [Full Text] [PDF]
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 G. M. Enns Newborn Screening by Tandem Mass Spectrometry NeoReviews, August 1, 2001; 2(8): e201 - 207. [Full Text] [PDF]
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D. H. Chace, J. C. DiPerna, B. L. Mitchell, B. Sgroi, L. F. Hofman, and E. W. Naylor Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death Clin. Chem., July 1, 2001; 47(7): 1166 - 1182. [Abstract] [Full Text] [PDF]
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P. M. Jones, M. Moffitt, D. Joseph, P. A. Harthcock, R. L. Boriack, J. A. Ibdah, A. W. Strauss, and M. J. Bennett Accumulation of Free 3-Hydroxy Fatty Acids in the Culture Media of Fibroblasts from Patients Deficient in Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase: A Useful Diagnostic Aid Clin. Chem., July 1, 2001; 47(7): 1190 - 1194. [Abstract] [Full Text] [PDF]
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J. C. Wood, M. J. Magera, P. Rinaldo, M. R. Seashore, A. W. Strauss, and A. Friedman Diagnosis of Very Long Chain Acyl-Dehydrogenase Deficiency From an Infant's Newborn Screening Card Pediatrics, July 1, 2001; 108(1): e19 - 19. [Abstract] [Full Text] [PDF]
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 D. Matern and M. J. Magera Mass Spectrometry Methods for Metabolic and Health Assessment J. Nutr., May 1, 2001; 131(5): 1615S - 1620. [Abstract] [Full Text]
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D. H. Chace, J. C. DiPerna, B. W. Adam, and W. H. Hannon Errors Caused by the Use of D,L-Octanoylcarnitine for Blood-Spot Calibrators Clin. Chem., April 1, 2001; 47(4): 758 - 760. [Full Text] [PDF]
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S. Albers and H. L. Levy One More Thought on Sudden Infant Death Syndrome Pediatrics, April 1, 2001; 107(4): 809 - 809. [Full Text]
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M. J. Magera, J. K. Helgeson, D. Matern, and P. Rinaldo Methylmalonic Acid Measured in Plasma and Urine by Stable-Isotope Dilution and Electrospray Tandem Mass Spectrometry Clin. Chem., November 1, 2000; 46(11): 1804 - 1810. [Abstract] [Full Text] [PDF]
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S. A. Centerwall and W. R. Centerwall The Discovery of Phenylketonuria: The Story of a Young Couple, Two Retarded Children, and a Scientist Pediatrics, January 1, 2000; 105(1): 89 - 103. [Abstract] [Full Text] [PDF]
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 E. W. Naylor and D. H. Chace Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism J Child Neurol, November 1, 1999; 14(1_suppl): S4 - S8. [Abstract] [PDF]
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A. H. Jackson, D. A. Applegarth, J. R. Toone, S. Kure, and H. L. Levy Atypical Nonketotic Hyperglycinemia With Normal Cerebrospinal Fluid to Plasma Glycine Ratio J Child Neurol, July 1, 1999; 14(7): 464 - 467. [Abstract] [PDF]
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H. L. Levy Newborn Screening by Tandem Mass Spectrometry: A New Era Clin. Chem., December 1, 1998; 44(12): 2401 - 2402. [Full Text] [PDF]
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D. H. Chace, J. E. Sherwin, S. L. Hillman, F. Lorey, and G. C. Cunningham Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours Clin. Chem., December 1, 1998; 44(12): 2405 - 2409. [Abstract] [Full Text] [PDF]
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M. Tuchman Molecular Diagnosis of Medium-Chain Acyl-CoA Dehydrogenase Deficiency by Oligonucleotide Ligation Assay Clin. Chem., January 1, 1998; 44(1): 10 - 11. [Full Text] [PDF]
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