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Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin
Author(s) -
Alós T.,
Bel Y.,
Cabello M. L.,
Catalá J. L.,
Dalmau J.,
Ferré J.,
García A. M.,
RuizVázquez P.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710298
Subject(s) - neopterin , biopterin , phenylalanine , phenylalanine hydroxylase , hyperphenylalaninemia , pteridine , heterozygote advantage , tyrosine , endocrinology , medicine , phenylketonurias , chemistry , tetrahydrobiopterin , biology , biochemistry , cofactor , allele , enzyme , amino acid , gene
Summary 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.