Cerebral 1H MR spectroscopy revealing white matter NAA decreases in glutaric aciduria type I

Mol Genet Metab. 2006 Jul;88(3):285-9. doi: 10.1016/j.ymgme.2006.01.001. Epub 2006 Feb 20.

Abstract

MR spectroscopy in two patients with glutaric aciduria type I revealed reductions in the white matter N-acetylaspartate signal, in the more severe case accompanied by a loss of glutamate and the appearance of lactate signals.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / metabolism
  • Brain / metabolism*
  • Brain / pathology
  • Child
  • Child, Preschool
  • Female
  • Glutamates / metabolism
  • Glutaryl-CoA Dehydrogenase / deficiency
  • Glutaryl-CoA Dehydrogenase / genetics*
  • Humans
  • Image Processing, Computer-Assisted
  • Inositol / metabolism
  • Lactates / metabolism
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Male

Substances

  • Glutamates
  • Lactates
  • Aspartic Acid
  • Inositol
  • N-acetylaspartate
  • Glutaryl-CoA Dehydrogenase