A NEUROLOGICAL EVALUATION OF ADULT PHENYLKETONURIA IN NORTHERN-IRELAND

To investigate the extant of neurological disease in adults with pheny lketonuria and also their requirement for specialist medical services, we assessed 27 such patients in Northern Ireland, Most had been diagn osed early and with one exception had dietary relaxation by early adol escence, Abnormal neurological features were elicited in 21/27 cases w ith significant delay of visual evoked potentials and somatosensory ev oked potentials occurring in 63.6 and 13.6% of cases respectively, Per iventricular white matter abnormalities were observed in 5/12 patients undergoing magnetic resonance imaging, whilst phenylalanine levels we re high (mean 1,226 mu mol/l). These data accord with the observation that even early treated patients with phenylketonuria can have signifi cant neurological morbidity in adulthood, although the correlation wit h current or recent dietary control is unclear and requires further st udy.