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Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals

Do the Higher Values in Heterozygotes Explain their Lowered Intellectual Level?

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Summary

Intracellular phenylalanine and tyrosine was determined in lymphocytes of 19 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being statistically highly significant. It is argued that this could be responsible for the slight, though statistically significant, intellectual inferiority of heterozygotes for PKU.

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Authors and Affiliations

  1. Department of Neonatology and Congenital Disorders, University Children's Hospital of Vienna, Währinger Gürtel 74, A-1090, Vienna, Austria

    O. Thalhammer & G. Lubec

  2. Institute for Plant Physiology, University of Vienna, Dr. Karl Lueger-Ring 1, A-1010, Vienna, Austria

    Helga Königshofer

Authors
  1. O. Thalhammer
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  2. G. Lubec
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  3. Helga Königshofer
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Thalhammer, O., Lubec, G. & Königshofer, H. Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Hum Genet 49, 333–336 (1979). https://doi.org/10.1007/BF00569353

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  • DOI: https://doi.org/10.1007/BF00569353

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