LONG-TERM FOLLOW-UP OF PATIENTS TREATED FOR PHENYLKETONURIA (PKU) - RESULTS FROM THE PRAGUE PKU CENTER

In order to examine the association between treatment parameters and i ntellectual outcome, a total of 58 adolescents with phenylketonuria (P KU) treated at the PKU center of the Department of Pediatrics at the U niversity of Prague were tested at the age of 15 years with the Prague Child Wechsler Test. Patients were classified into three groups with different levels of dietary control that remained relatively stable ov er time at mean phenylalanine levels of 360, 540 and 680 mu mol/l. The mean level of phenylalanine was highly correlated with IQ and school education. Patients with mean phenylalanine levels of less than or equ al to 360 mu mol/l had near-normal level. Initial experience with eigh t cases of maternal PKU underlines the necessity for a strict treatmen t regimen, which must be started pre-conception in order to prevent th e fetus from developmental damage.