Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test.
A simple, oral phenylalanine loading test was developed in order to discriminate between controls, phenylketonuria and persistent hyperphenylalaninemia patients. Only three capillary blood specimens for quantitation of phenylalanine and tyrosine over a short duration (90 min) were required. Using stepwise multivariate discriminant analysis, accurate classification was achieved for 27 controls, 12 patients with phenylketonuria and 6 with persistent hyperphenylalaninemia. This loading test and analysis is both simpler and less expensive than those previously described.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000097:blood / Q000175:diagnosis*; D013223:Statistics as Topic; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D010649:Phenylalanine