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Heterozygous carriers in the relatives of a case of phenylketonuria

2009; BioMed Central; Volume: 75; Issue: 1 Linguagem: Inglês

10.1111/j.1601-5223.1973.tb01147.x

1601-5223

Risto Kääriäinen, Rolf Karlsson,

Metabolomics and Mass Spectrometry Studies

HereditasVolume 75, Issue 1 p. 109-118 Open Access Heterozygous carriers in the relatives of a case of phenylketonuria RISTO KÄÄRIÄINEN, Corresponding Author RISTO KÄÄRIÄINEN Social Science Research Council of the Finnish Academy, Helsinki, Regional Hospital of Porvoo, Finland2Hämeenk, 16A SF-761 00 Pieksämäki 10, FinlandSearch for more papers by this authorROLF KARLSSON, ROLF KARLSSON Social Science Research Council of the Finnish Academy, Helsinki, Regional Hospital of Porvoo, FinlandSearch for more papers by this author RISTO KÄÄRIÄINEN, Corresponding Author RISTO KÄÄRIÄINEN Social Science Research Council of the Finnish Academy, Helsinki, Regional Hospital of Porvoo, Finland2Hämeenk, 16A SF-761 00 Pieksämäki 10, FinlandSearch for more papers by this authorROLF KARLSSON, ROLF KARLSSON Social Science Research Council of the Finnish Academy, Helsinki, Regional Hospital of Porvoo, FinlandSearch for more papers by this author First published: December 1973 https://doi.org/10.1111/j.1601-5223.1973.tb01147.xCitations: 4AboutPDF ToolsExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract The 10 adult relatives of a known case of phenylketonuria (PKU) were analysed with the criterion groups of normal controls (N = 24) and heterozygotes (N = 16), with values of fasting and loading phenylalanine (100 mg/kg of body weight) and tyrosine to demonstrate which of the relatives fell outside or inside the heterozygous zone. The first original 6 and all 12 logarithmic variables were used in the computerized discriminant analysis. The discriminant scores did not overlap and 6 of the relatives including both parents were classified as heterozygous carriers. The discrimination powers of the method used were higher than in the best reported studies and indicate that the problem of overlapping and misclassification can be avoided with the computerized discriminant analysis. Literature cited Anderson, J. A., Gravem, H., Ertel, R. and Fisch, R. 1962. Identification of heterozygotes with phenylketonuria on basis of blood tyrosine responses. J. 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