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.
Subject(s)
Biopterins/analogs & derivatives , Biopterins/blood , Genetic Carrier Screening/methods , Phenylketonurias/genetics , Adult , Female , Humans , Male , Neopterin , Phenylalanine/blood , Tyrosine/bloodSubject(s)
Erythrocytes/analysis , Porphyrins/analysis , Protoporphyrins/analysis , Thalassemia/blood , HumansABSTRACT
The authors make a review of the physical methods available to obstetricians at the present time, i.e.: uterine contents, radiopelvimetry and more recently echography. They lay stress on echography, the contribution of which is of special interest for obstetrics, and they suggest directions adequate to the monitoring of pregnancy whether an echograph is available or not.
