Abstract
The intellectual, neurological, and neuropsychological outcome of patients with non-phenylke-tonuric-hyperphenylalaninaemia (PKU-HPA) (serum phenylalanine levels under free diet <600 µmol/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.
Similar content being viewed by others
Abbreviations
- CWIT :
-
colour word interference task
- DPE :
-
dot pattern exercise
- MLS :
-
motor performance task
- Non-PKU HPA :
-
non-PKU hyperphenylalaninaemia
- Phe :
-
phenylalanine
- PKU :
-
phenylketonuria
References
Blascovics ME, Scheffler GE, Hack S (1974) Phenylalaninemia. Differential diagnosis. Arch Dis Child 49:835–843
Costello PM, Beasley MG, Tillotson SL, Smith I (1994) Intelligence in mild atypical phenylketonuria. Eur J Pediatr 153: 260–263
Report of the “British Medical Council Working Party on Phenylketonuria” (1993) Arch Dis Child: 426–427
Schmidt E, Rupp A, Burgard P, Pietz J, Weglage J, Sonneville L de (1994) Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level. J Clin Exp Neuropsychol 16 5:681–688
Smith I, Beasley MG, Ades AE (1990) Intelligence and quality of dietary treatment in phenylketonuria. Arch Dis Child 65:472–478
Ullrich K, Weglage J, Schuierer G, Flinders B, Pietsch M, Koch HG, Hahn-Ullrich H (1994) Cranial MRI in PKU: evaluation of a critical threshold for blood phenylalanine. Neuropediatr 25: 278–279
Weglage J, Hinders B, Wilken B, Schubert D, Schmidt E, Burgard P, Ullrich K (1992) Psychological and social findings in adolescents with phenylketonuria. Eur J Pediatr 151:522–525
Weglage J, Pietsch M, Flinders B, Koch HG, Ullrich K (1995) Neurological findings in early treated phenylketonuria. Acta Paediatr Scand 84:411–415
Weglage J, Pietsch M, Fünders B, Koch HG, Ullrich K (1995) Deficits in selective and sustained attention processes in early treated phenylketonurics — result of impaired frontal lobe and anterior cingulate functions. Eur J Pediatr (in press)
Author information
Authors and Affiliations
Additional information
This study was carried out on behalf of the German Collaborative PKU Study
Rights and permissions
About this article
Cite this article
Weglage, J., Ullrich, K., Pietsch, M. et al. Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome. Eur J Pediatr 155 (Suppl 1), S26–S28 (1996). https://doi.org/10.1007/PL00014244
Issue Date:
DOI: https://doi.org/10.1007/PL00014244