A simplified PKU gene carrier detection test using fasting blood.
By fluorometric analysis of fasting phenylalanine and tyrosine plasma levels, we could discriminate classic gene PKU carriers from non-carriers with 99% confidence in 67 of 74 adults. Results on the remaining seven subjects were non-discriminating. However, we could not determine their carrier status by other accepted testing parameters either (such as phenylalanine dosing). In contrast to the latter, our method: (1) allows for 90% of the population a relatively accurate but more benign test for carriers of the classical PKU gene (requiring only fluorometry on a single fasting blood specimen); (2) identifies the remaining 10% of the population who require the more cumbersome-noxious testing by phenylalanine dosing.
D005215:Fasting; D006580:Genetic Carrier Screening; D006801:Humans; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000175:diagnosis*; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D010649:Phenylalanine