title: Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change.
abstract: OBJECTIVE
  To investigate the extent to which the abnormalities in cerebral white matter in adolescents and adults with phenylketonuria (PKU) are reversible.
  
  
  METHODS
  Magnetic resonance imaging (MRI) of the brain was repeated in 41 patients with PKU (age range, 14 to 49 years) after an interval (median, 9 months; range, 3 to 12 months) of dietary intervention. Scans were scored according to the extent of the white matter involvement. After an initial MRI, five patients returned to a strict low-phenylalanine diet with amino acid supplement; 21 patients started a low-protein diet (1 gm/kg) with amino acids supplement; and 15 patients made no dietary alteration.
  
  
  RESULTS
  Scans improved in all five patients who returned to a strict low-phenylalanine diet, in 5 of the 21 patients on the low-protein diet plus amino acid supplement, and in 4 of the 15 patients who made no dietary change. There was a significant association between change in the MRI findings and in the blood phenylalanine concentration (Pearson correlation: r = 0.55; p < 0.0002) and between change in the MRI and in the phenylalanine level at the time of the second scan (r = 0.58; p < 0.0001). Improvement was seen primarily in those in whom phenylalanine levels were reduced to less than 900 mumol/L. There was no obvious change in MRI score after 3 weeks of strict phenylalanine restriction for the two adults who underwent serial scanning.
  
  
  CONCLUSIONS
  The MRI changes in PKU are at least partially reversible by lowering the blood phenylalanine concentration.
authors.affiliation: Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, United Kingdom.
authors.forename: M A
authors.initials: MA
authors.lastname: Cleary
authors.forename: J H
authors.initials: JH
authors.lastname: Walter
authors.forename: J E
authors.initials: JE
authors.lastname: Wraith
authors.forename: F
authors.initials: F
authors.lastname: White
authors.forename: K
authors.initials: K
authors.lastname: Tyler
authors.forename: J P
authors.initials: JP
authors.lastname: Jenkins
mesh_terms: D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000008:administration & dosage; D001921:Brain / Q000473:pathology*; D018753:Diet, Protein-Restricted; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010649:Phenylalanine / Q000008:administration & dosage / Q000097:blood; D010661:Phenylketonurias / Q000178:diet therapy* / Q000473:pathology*; D013997:Time Factors
chemical_list: D000596:Amino Acids; D010649:Phenylalanine