Magnetic resonance imaging of the brain in phenylketonuria

Lancet. 1994 Jul 9;344(8915):87-90. doi: 10.1016/s0140-6736(94)91281-5.


Abnormalities of magnetic resonance imaging (MRI) of the brain occur in some patients with phenylketonuria but the clinical importance of this finding is not clear. In order to determine the frequency and functional significance of changes on MRI we investigated 77 adolescent and adult patients with phenylketonuria. Patients aged 14-49 years and taking a restricted diet of 1 g/kg protein underwent clinical examination, IQ testing, neurophysiological investigation, and MRI of the brain. Patients aged between 10-14 years taking a low phenylalanine diet with amino acid supplements had MRI of the brain only. Biochemical control was assessed from: the lifetime blood phenylalanine determined from the mean blood concentration throughout life; the accumulated time for each patient that phenylalanine was < 120 mumol/L; the accumulated time for each patient that phenylalanine was > 1200 mumol/L); mean blood concentration in the first 4 years of life; and the mean blood phe concentration in the 5 years prior to imaging. MRI changes, compatible with a disturbance in the water content of white matter, were present in all but 1 patient. The severity of abnormality was most strongly associated with the blood phenylalanine concentration at the time of imaging. Clinical and neurophysiological abnormalities were less common and usually mild. 3 patients had prolonged central motor conduction time, 7 had prolonged visual evoked potentials, and 5 had impaired peripheral sensory nerve conduction. There was no significant association between the extent of MRI abnormalities and IQ, and the presence of neurophysiological, or clinical abnormalities. An abnormal brain scan in PKU may reflect present biochemical control rather than indicate significant neurological damage. As yet there is little evidence that in most patients with PKU these MRI changes are of clinical importance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology*
  • Child
  • Evoked Potentials, Somatosensory
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Intelligence Tests
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurologic Examination
  • Phenylalanine / blood
  • Phenylketonurias / diet therapy
  • Phenylketonurias / pathology*
  • Phenylketonurias / physiopathology


  • Phenylalanine