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

1 January 1979

journal article
research article
Published by Springer Nature in Human Genetics

Vol. 49 (3) , 333-336
https://doi.org/10.1007/bf00569353

Abstract

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.

Keywords

INTERNAL MEDICINE
TYROSINE
METABOLIC DISEASE
PHENYLALANINE
NORMAL PERSON

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