Original Paper

A Neurological Evaluation of Adult Phenylketonuria in Northern Ireland
G.V. McDonnell^a, T.F. Esmonde^a, D.R. Hadden^b, J.I. Morrow<sup>a

a</sup> Northern Ireland Neurology Service and
^b Sir George E. Clark Metabolic Unit, Royal Victoria Hospital, Belfast, Northern Ireland

Address of Corresponding Author

Eur Neurol 1998;39:38-43 (DOI: 10.1159/000007895)

  Key Words

• Phenylketonuria
• Phenylalanine
• Neurological signs
• Visual evoked potentials
• Somatosensory evoked potentials
• Magnetic resonance imaging

  Abstract

To investigate the extent of neurological disease in adults with phenylketonuria and also their requirement for specialist medical services, we assessed 27 such patients in Northern Ireland. Most had been diagnosed early and with one exception had dietary relaxation by early adolescence. Abnormal neurological features were elicited in 21/27 cases with significant delay of visual evoked potentials and somatosensory evoked potentials occurring in 63.6 and 13.6% of cases respectively. Periventricular white matter abnormalities were observed in 5/12 patients undergoing magnetic resonance imaging, whilst phenylalanine levels were high (mean 1,226 µmol/l). These data accord with the observation that even early treated patients with phenylketonuria can have significant neurological morbidity in adulthood, although the correlation with current or recent dietary control is unclear and requires further study.

  Author Contacts

Dr. J.I. Morrow
Northern Ireland Neurology Service, Quin House
Royal Victoria Hospital, Grosvenor Road
Belfast BT12 6BA (Northern Ireland)
Tel. (232) 240503 ext 4325, Fax (232) 235258

  Article Information

Received: Received: November 4, 1996
Accepted: March 11, 1997
Number of Print Pages : 6
Number of Figures : 1, Number of Tables : 3, Number of References : 16