GERMAN MATERNAL PHENYLKETONURIA STUDY

The German maternal phenylketonuria (MPKU) Study began in 1989 and sin ce 1992 works together with the American-Canadian MPKU Study. Main goa ls of the study are: (1) to find women with phenylketonuria (PKU) and mild untreated hyperphenylalaninaemia (HPA); (2) to inform them about the risks of an untreated pregnancy with PKU and HPA; (3) to evaluate the efficacy of the phenylalanine (Phe) restricted dietary treatment p rior to and during pregnancy by following the physical and cognitive d evelopment of offspring from treated pregnancies. An interim report of the study is presented. Until now, 43 pregnancies have been followed. They resulted in 34 live births, 24 from women with PKU and 10 from w omen with HPA. There are significant negative correlations between the gestational age in which the dietary control (blood Phe level < 360 m u mol/l) was reached and pregnancy outcome as measured by growth param eters and early cognitive and motor developmental quotients at the age of 2 years. For minimizing risks of MPKU, preconceptional dietary con trol is strongly recommended. Tracking and timely information of young women about risks of MPKU is of outmost importance.