White matter abnormalities in phenylketonuria: results of magnetic resonance measurements

Acta Paediatr Suppl. 1994 Dec:407:78-82. doi: 10.1111/j.1651-2227.1994.tb13459.x.

Abstract

In adolescents and adults with PKU, blood phenylalanine levels above 10 mg/dl are generally associated with white matter changes in MRI. The grade of these changes is correlated to most recent blood phenylalanine levels. Based on studies using T2 relaxometry the MRI changes seem to be the consequence of a reversible dysmyelination. The clinical relevance of these white matter changes remains unclear as the extent of MRI alterations did not correlate with IQ, neurological and electrophysiological deficits of the patients. The intracerebral phenylalanine concentration as measured by protonspectroscopy amounts to about 50% of blood phenylalanine concentrations. Preliminary data indicate that brain phenylalanine levels remain constant if blood concentrations exceed 20 mg/dl. This might be of clinical relevance for the treatment of adolescent and adult PKU patients.

Publication types

  • Review

MeSH terms

  • Brain Chemistry
  • Brain Diseases / etiology
  • Brain Diseases / pathology*
  • Case-Control Studies
  • Demyelinating Diseases / etiology
  • Demyelinating Diseases / pathology*
  • Electrophysiology
  • Humans
  • Magnetic Resonance Imaging*
  • Phenylalanine / analysis
  • Phenylketonurias / blood
  • Phenylketonurias / complications*
  • Phenylketonurias / diet therapy

Substances

  • Phenylalanine