Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome.

The intellectual, neurological, and neuropsychological outcome of patients with non-phenylketonuric-hyperphenylalaninaemia (PKU-HPA) (serum phenylalanine levels under free diet < 600 mumol/l) has not been systematically studied so far. We therefore tested 28 patients (mean age = 21.8, SD = 4.2 years) for IQ (WAIS-R/WISC-R), school performance, job career, clinical neurological examination, fine motor performance (motor performance task), and selective and sustained attention (stroop task, Dot Pattern Exercise from the Sonneville visual attention task). In addition, cranial MRI (1.5 T unit) was obtained in 10 of these patients. Clinical-neurological examination revealed no significant abnormalities in the non-PKU-HPA patients. They also had a normal IQ (mean = 101.9, SD = 13.6). Compared to their healthy siblings, they attended a normal school and had a normal job career. The motor performance task revealed no deficits in fine motor abilities. The patients performed normally in the stroop task and the dot pattern exercise. Their MRIs were normal. Our results indicate that patients with non-PKU-HPA are not at risk for developing intellectual, neurological, and neuropsychological impairment, as described for patients with treated mild or classical phenylketonuria. From this point of view a dietary treatment is not necessary in patients with hyperphenylalaninaemia.