Proton MR spectroscopy in Lesch-Nyhan disease

AJNR Am J Neuroradiol. 1998 Apr;19(4):672-4.

Abstract

In vivo proton spectra for four patients with Lesch-Nyhan disease and four control subjects matched for age and sex were acquired from voxels (1.5 x 1.5 x 1.5 cm3) placed in the prefrontal cortex and striatum. The patients with Lesch-Nyhan disease had decreased metabolites, especially N-acetylaspartate and glutamate/glutamine, only in the prefrontal cortex as compared with the control group. These findings suggest axonal loss in the prefrontal area of this population. The cortical glutamate/glutamine peak decrement does not confirm cytopathologic studies of Lesch-Nyhan disease and deserves further investigation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Child
  • Choline / metabolism
  • Corpus Striatum / metabolism
  • Glutamic Acid / metabolism
  • Glutamine / metabolism
  • Humans
  • Inositol / metabolism
  • Lesch-Nyhan Syndrome / diagnosis*
  • Lesch-Nyhan Syndrome / metabolism*
  • Magnetic Resonance Spectroscopy*
  • Male
  • Prefrontal Cortex / metabolism
  • Protons

Substances

  • Protons
  • Glutamine
  • Aspartic Acid
  • Glutamic Acid
  • Inositol
  • N-acetylaspartate
  • Choline