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  • Title: Plasma phenylalanine and tyrosine levels revisited in heterozygotes for hyperphenylalaninaemia.
    Author: Saraiva JM, Seakins JW, Smith I.
    Journal: J Inherit Metab Dis; 1993; 16(1):105-9. PubMed ID: 8487490.
    Abstract:
    We examined the value of the fasting plasma phenylalanine/tyrosine ratio obtained in an ordinary clinical setting for assessing the probability of being a heterozygote for hyperphenylalaninaemia. This biochemical test was found to be of little value in those with a high (66%) prior risk of heterozygosity, because it could not reduce the risk below 12%. However, in a population with a prior risk of only 2%, it discriminates the 3% with a 19% risk from the 97% with a risk of 1.5% or less. This simple method could usefully be applied to such a population, in order to select those at higher risk for further investigation using molecular genetics.
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