Proton in vivo spectroscopy of patients with hyperphenylalaninaemia

Neuropediatrics. 1993 Apr;24(2):111-2. doi: 10.1055/s-2008-1071525.

Abstract

Changes in MR images and 1H spectra of 20 patients with hyperphenylalaninaemia were compared with data of controls. Major changes in T2 MR images were found in the periventricular area (20/19). Some patients showed lesions in MR images of basal ganglia (20/7) and in the cerebellum (20/4). The results of proton MR spectroscopy show no significant difference for NAA/Cr ratios but significant ones between the ratios of NAA/Cho (p = 0.97) and Cho/Cr (p = 0.98) of controls and patients with hyperphenylalaninaemia.

MeSH terms

  • Adult
  • Aspartic Acid / analysis
  • Biopterins / deficiency
  • Brain / physiopathology*
  • Brain Chemistry
  • Brain Diseases / diagnosis*
  • Brain Diseases / etiology
  • Brain Diseases / physiopathology
  • Child
  • Choline / analysis
  • Creatine / analysis
  • Demyelinating Diseases / complications
  • Demyelinating Diseases / physiopathology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Phenylalanine / analysis*
  • Phenylketonurias / complications*
  • Phenylketonurias / physiopathology

Substances

  • Biopterins
  • Aspartic Acid
  • Phenylalanine
  • Creatine
  • Choline