[Results, problems and consequences of early treatment of phenylketonuria]

Abstract

Screening of PKU was started in GDR by means of a napkin-test in 1967 and by Guthrie-test in 1971. A normal development is possible if treatment is started within the first 3 months of life and if the dietary control is good. Maintenance of a dietary control becomes difficult with growing age. The diet, however, should strictly be kept up to the age of 8 to 10 years. Thereafter there should be a low protein nutrition possible with supplementation of tyrosine. Prenatal diagnosis, which is possible in most of the families by RFLP technique, is justified despite the good results because of the social impact onto the family caused by the treatment. Treatment again must be started before pregnancy and must strictly be kept up to birth to avoid fetal damage by maternal PKU.