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Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.

Publication ,  Journal Article
Chace, DH; Millington, DS; Terada, N; Kahler, SG; Roe, CR; Hofman, LF
Published in: Clin Chem
January 1993

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.

Duke Scholars

Published In

Clin Chem

ISSN

0009-9147

Publication Date

January 1993

Volume

39

Issue

1

Start / End Page

66 / 71

Location

England

Related Subject Headings

  • Tyrosine
  • Reference Values
  • Quality Control
  • Phenylketonurias
  • Phenylalanine
  • North Carolina
  • Neonatal Screening
  • Mass Spectrometry
  • Infant, Newborn
  • Humans
 

Citation

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MLA
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Chace, D. H., Millington, D. S., Terada, N., Kahler, S. G., Roe, C. R., & Hofman, L. F. (1993). Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem, 39(1), 66–71.
Chace, D. H., D. S. Millington, N. Terada, S. G. Kahler, C. R. Roe, and L. F. Hofman. “Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry.Clin Chem 39, no. 1 (January 1993): 66–71.
Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem. 1993 Jan;39(1):66–71.
Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem. 1993 Jan;39(1):66–71.

Published In

Clin Chem

ISSN

0009-9147

Publication Date

January 1993

Volume

39

Issue

1

Start / End Page

66 / 71

Location

England

Related Subject Headings

  • Tyrosine
  • Reference Values
  • Quality Control
  • Phenylketonurias
  • Phenylalanine
  • North Carolina
  • Neonatal Screening
  • Mass Spectrometry
  • Infant, Newborn
  • Humans