title: Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin.
abstract: A novel approach that combines information provided by the metabolism of pteridines and that of phenylalanine has been applied to the detection of heterozygotes for phenylketonuria. Phenylalanine, tyrosine, biopterin and neopterin have been measured in serum from normal controls and heterozygotes for classical phenylketonuria, before and after a phenylalanine oral load. Significant differences in neopterin and biopterin mean values in fasting serum and in the mean increase of biopterin induced by the phenylalanine load were found between groups. Inclusion of pteridine data in the discriminant analysis significantly improved the resolution of the classical phenylalanine loading test for the detection of heterozygotes for phenylketonuria.
authors.affiliation: Unidad de Metabolopatías, Hospital Universitario La Fe, Valencia, Spain.
authors.forename: T
authors.initials: T
authors.lastname: Alós
authors.forename: Y
authors.initials: Y
authors.lastname: Bel
authors.forename: M L
authors.initials: ML
authors.lastname: Cabello
authors.forename: J L
authors.initials: JL
authors.lastname: Catalá
authors.forename: J
authors.initials: J
authors.lastname: Dalmau
authors.forename: J
authors.initials: J
authors.lastname: Ferré
authors.forename: A M
authors.initials: AM
authors.lastname: García
authors.forename: P
authors.initials: P
authors.lastname: Ruiz-Vázquez
mesh_terms: D000328:Adult; D001708:Biopterins / Q000031:analogs & derivatives* / Q000097:blood*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008297:Male; D019798:Neopterin; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000235:genetics*; D014443:Tyrosine / Q000097:blood
chemical_list: D001708:Biopterins; D014443:Tyrosine; D010649:Phenylalanine; D019798:Neopterin