Heterozygote detection in phenylketonuria. Measurement of discriminatory ability and interpretation of the phenylalanine loading test by determination of the heterozygote likelihood ratio.

Two tests of heterozygosity for phenylketonuria, the phenylalanine/tyrosine ratio in the plasma after a fast and the response to an oral load of phenylalanine, have been compared in obligate heterozygotes for phenylketonuria and apparent normal homozygotes. The discriminatory ability of the tests is measured using both parametric and non-parametric methods, the correlation between them is determined, and the reproducibility of the loading test is examined. Because complete separation between the genotypes cannot be achieved by these tests, a method of interpretation which avoids possibly erroneous categoric statements and which enables the family history of a subject and his test result to be combined in a quantitative and meaningful way is described.