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Clinical Chemistry, Vol 39, 66-71, Copyright © 1993 by American Association for Clinical Chemistry
DH Chace, DS Millington, N Terada, SG Kahler, CR Roe and LF Hofman
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
A new method for quantifying specific amino acids in small volumes of plasma and whole blood has been developed. Based on isotope-dilution tandem mass spectrometry, the method takes only a few minutes to perform and requires minimal sample preparation. The accurate assay of both phenylalanine and tyrosine in dried blood spots used for neonatal screening for phenylketonuria in North Carolina successfully differentiated infants who had been classified as normal, affected, and falsely positive by current fluorometric methods. Because the mass- spectrometric method also recognizes other aminoacidemias simultaneously and is capable of automation, it represents a useful development toward a broad-spectrum neonatal screening method.
The following articles in journals at HighWire Press have cited this article:
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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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J. M. Lacey, C. Z. Minutti, M. J. Magera, A. L. Tauscher, B. Casetta, M. McCann, J. Lymp, S. H. Hahn, P. Rinaldo, and D. Matern Improved Specificity of Newborn Screening for Congenital Adrenal Hyperplasia by Second-Tier Steroid Profiling Using Tandem Mass Spectrometry Clin. Chem., March 1, 2004; 50(3): 621 - 625. [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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 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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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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R. Fingerhut, W. Roschinger, A. C. Muntau, T. Dame, J. Kreischer, R. Arnecke, A. Superti-Furga, H. Troxler, B. Liebl, B. Olgemoller, et al. Hepatic Carnitine Palmitoyltransferase I Deficiency: Acylcarnitine Profiles in Blood Spots Are Highly Specific Clin. Chem., October 1, 2001; 47(10): 1763 - 1768. [Abstract] [Full Text] [PDF]
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 A. Holzinger, W. Roschinger, F. Lagler, P. U. Mayerhofer, P. Lichtner, T. Kattenfeld, L. P. Thuy, W. L. Nyhan, H. G. Koch, A. C. Muntau, et al. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency Hum. Mol. Genet., June 1, 2001; 10(12): 1299 - 1306. [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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D. H. Chace, B. W. Adam, S. J. Smith, J. R. Alexander, S. L. Hillman, and W. H. Hannon Validation of Accuracy-based Amino Acid Reference Materials in Dried-Blood Spots by Tandem Mass Spectrometry for Newborn Screening Assays Clin. Chem., August 1, 1999; 45(8): 1269 - 1277. [Abstract] [Full Text] [PDF]
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M. Tuchman and M. T. McCann Phenylalanine and Tyrosine Quantification by Stable Isotope Dilution Liquid Chromatography–Mass Spectrometry from Filter Paper Blood Spots Clin. Chem., April 1, 1999; 45(4): 571 - 572. [Full Text] [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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A. A. Reilly, R. Bellisario, and K. A. Pass Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography Clin. Chem., February 1, 1998; 44(2): 317 - 326. [Abstract] [Full Text] [PDF]
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D. H. Chace, S. L. Hillman, J. L. K. Van Hove, and E. W. Naylor Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry Clin. Chem., November 1, 1997; 43(11): 2106 - 2113. [Abstract] [Full Text] [PDF]
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 K. Bartlett, S. J Eaton, and M. Pourfarzam New developments in neonatal screening Arch. Dis. Child. Fetal Neonatal Ed., September 1, 1997; 77(2): 151F - 154. [Full Text]
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