Statistical evaluation of a new method to detect carriers of phenylketonuria.
40 positive heterozygotes and 43 controls were loaded with 200 mg phenylalanine per kilogram body weight. The aromatic acids excreted 2 hrs after the loading were quantified by gaschromatography. The amounts of mandelic acid (MA), 2-hydroxyphenylacetic acid (2HOPAA) and phenylpyruvic acid (PPA) were used for a discriminatory analysis. The MA concentration alone gives a better discrimination than the statistical analysis.
D005069:Evaluation Studies as Topic; D006579:Heterozygote; D006801:Humans; D008333:Mandelic Acids / Q000652:urine; D010648:Phenylacetates / Q000652:urine; D010649:Phenylalanine; D010661:Phenylketonurias / Q000235:genetics* / Q000652:urine; D010667:Phenylpyruvic Acids / Q000652:urine; D013223:Statistics as Topic
D008333:Mandelic Acids; D010648:Phenylacetates; D010667:Phenylpyruvic Acids; D010649:Phenylalanine