252 INTELLECTUAL OUTCOME AND CRANIAL MRI-FINDINGS IN PATIENTS WITH PERSISTENT HYPERPHENYLALANINEHIA (HPA)

Abstract

The intellectual outcome of patients with HPA (serum phe levels under free diet < 600 μmol/l) was not systematically studied so far. Therefore we tested 31 patients (age: 22 ± 4 years) for IQ (WAIS-R) and school performance. In addition cranial MRI (1.5 T unit) was obtained in 10 of these patients. The patients reached a normal IQ (X=102, SD=15; normal population: X=100, SD 15). They neither started school later than their siblings nor did they repeat classes more often, and they went to the same types of schools. The evaluation of patients' MRIs revealed no abnormalities in any case. Our results indicate that untreated patients with persistent HPA are not at risk for developing deficits in intellectual performance and white matter changes, as described for patients with treated mild or classical PKU. From this point of view a dietary treatment is not necessary in patients with HPA, as recommended most recently (1). 1. British Medical Working Party on PKU (1993). New British Recommendations for the Management of PKU. Arch Dis Child, 68: 426 - 427