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Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria

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Summary

A method is described to detect carriers of phenylketonuria (PKU). 200 mg Phenylalanine per kilogram body weight are orally administered to 9 heterozygotes and 10 normal controls. Some phenylalanine metabolites in urine are quantitatively determined by gas chromatography. Both groups can be distinguished by the excreted amounts of mandelic acid (MA), phenylpyruvic acid (PPA), 2-hydroxyphenylacetic acid (2HOPAA) and phenylacetic acid (PAA).

Zusammenfassung

Ein Heterozygotentest für die Phenylketonurie (PKU) wird beschrieben. 200 mg Phenylalanin pro Kilogramm Körpergewicht werden 9 Heterozygoten und 10 Kontrollpersonen oral verabreicht. Einige Metaboliten des Phenylalanins werden nach bestimmten Zeiten im Urin gaschromatographisch quantitativ bestimmt. Gut unterscheidbar sind beide Versuchsgruppen mit Hilfe der Werte von Mandelsäure (MA), Phenylbrenztraubensäure (PPA), 2-Hydroxyphenylessigsäure (2HOPAA) und Phenylessigsäure (PAA).

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Authors and Affiliations

  1. Institut für Humangenetik, University of Bonn, Bonn, Germany

    K. Olek, K. Oyanagi & P. Wardenbach

Authors
  1. K. Olek
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  2. K. Oyanagi
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  3. P. Wardenbach
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Supported by the Deutsche Forschungsgemeinschaft.

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Olek, K., Oyanagi, K. & Wardenbach, P. Quantitative analysis of phenylalanine metabolites in urine to detect heterozygotes of phenylketonuria. Humangenetik 22, 85–88 (1974). https://doi.org/10.1007/BF00338140

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  • DOI: https://doi.org/10.1007/BF00338140

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