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Clinical Chemistry 44: 317-326, 1998;
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(Clinical Chemistry. 1998;44:317-326.)
© 1998 American Association for Clinical Chemistry, Inc.

Test Utilization and Outcome

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

Andrew A. Reilly1,3,2, Ronald Bellisario2, and Kenneth A. Pass2,4

1 Structural Pathology Laboratory and
2 Laboratory of Newborn Screening and Genetic Services, Wadsworth Center, New York State Department of Health, P.O. Box 509, Albany, NY 12201-0509.
Departments of
3 Biometry and Statistics and
4 Biomedical Sciences, School of Public Health, University at Albany, One University Place, Rensselaer, NY 12144-3456.


Abstract

Ion-exchange HPLC was developed for testing dried blood-spot specimens from newborns. The method is suitable for quantitative confirmatory testing of abnormal specimens detected in the New York State Newborn Screening Program. Positive specimens were initially identified among all New York State newborns with semiquantitative bacterial inhibition assays (BIA) for aminoacidopathies, including phenylketonuria (PKU) and non-PKU hyperphenylalaninemia (HP), maple syrup urine disease, and homocystinuria. A selection of 1346 specimens from routine BIA screening, including 131 newborns with PKU or persistent HP, were tested by HPLC. Of 179 BIA results that were falsely positive, 98 (55%) were also falsely positive by HPLC in which the Phe/Tyr ratio was the discriminator and the threshold was set to attain 100% sensitivity. Investigation of three multivariate discriminatory methods revealed that linear discriminant analysis excluded all but 35 (20%) of the BIA false-positives.




The following articles in journals at HighWire Press have cited this article:


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 Clin. Chem.Home page
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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 Clin. Chem.Home page
K. A. Pass
Commentary on: Use of Microsphere Immunoassay for Simplified Multianalyte Screening of Thyrotropin and Thyroxine in Dried Blood Spots from Newborns
Clin. Chem., February 1, 2003; 49(2): 336 - 336.
[Full Text] [PDF]

Home page
 Clin. Chem.Home page
R. Bellisario, R. J. Colinas, and K. A. Pass
Simultaneous Measurement of Thyroxine and Thyrotropin from Newborn Dried Blood-Spot Specimens Using a Multiplexed Fluorescent Microsphere Immunoassay
Clin. Chem., September 1, 2000; 46(9): 1422 - 1424.
[Full Text] [PDF]

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E Carty, M De Brabander, R M Feakins, and D S Rampton
Measurement of in vivo rectal mucosal cytokine and eicosanoid production in ulcerative colitis using filter paper
Gut, April 1, 2000; 46(4): 487 - 492.
[Abstract] [Full Text] [PDF]


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Copyright © 1998 by the American Association for Clinical Chemistry.