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Clinical Chemistry 17: 538-543, 1971;
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Clinical Chemistry, Vol 17, 538-543, Copyright © 1971 by the American Association for Clinical Chemistry

Detection of Phenylketonuric Heterozygotes

Sanford H. Jackson 1, William B. Hanley 1, Terese Gero 1, and G. D. Gosse 1

1 Departments of Clinical Biochemistry and Pediatrics, Research Institute, The Hospital for Sick Children, Toronto 2, Canada.

Estimation of plasma phenylalanine and tyrosine by an abridged (30 min) column chromatography procedure was assessed. Plasma phenylalanine and tyrosine concentrations, determined in 112 phenylketonuric obligate heterozygotes and in 88 normal controls, did not differ significantly from other reported series in which the data were obtained by column chromatography. All these series were combined and analyzed statistically. Phenylketonuric heterozygotes can be detected with a high degree of discrimination by the ratio of phenylalanine to tyrosine in the plasma of the fasting subject, in combination with the plasma phenylalanine concentration.


Key Words: pregnancy • oral contraceptive effect • ion-exchange chromatography • plasma phenylalanine and tyrosine: speedier determination, ratio in plasma • "typical" and "atypical" PKU • Micro PKU Analyzer

Submitted on October 28, 1970
Accepted on April 10, 1971






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Copyright © 1971 by the American Association for Clinical Chemistry.