Proton NMR spectroscopy of Canavan's disease

Neuropediatrics. 1992 Oct;23(5):263-7. doi: 10.1055/s-2008-1071355.

Abstract

Proton Nuclear Magnetic Resonance (NMR) spectroscopy was used to quantitatively determine cerebral N-Acetyl Aspartate (NAA) concentrations in four patients with Canavan's disease and in four age-matched control subjects. Macroscopic NAA concentrations (mumol/gm wet weight) were not found to be significantly different from controls. Reduced levels of choline and creatine were observed in all patients, and increased levels of lactate and inositol in the eldest three patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amidohydrolases / deficiency*
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / metabolism
  • Brain / metabolism*
  • Brain Diseases, Metabolic / congenital*
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / metabolism
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Jews / genetics
  • Magnetic Resonance Spectroscopy*
  • Male

Substances

  • Aspartic Acid
  • N-acetylaspartate
  • Amidohydrolases