Striatal degeneration and spongy myelinopathy in glutaric acidemia

J Neurol Sci. 1992 Feb;107(2):199-204. doi: 10.1016/0022-510x(92)90289-w.


The neuropathological findings in a 6 1/2-year-old boy with glutaric acidemia (GA) are described, and the pathology of 7 additional literature cases is briefly reviewed. Bilateral striatal degeneration and spongy change of the white matter were the salient features in this case and seem to represent the cardinal pathological features of the disease. Spongy myelinopathy was the result of intramyelinic vacuolation due to splitting of the myelin sheath along the intraperiod line, as illustrated here for the first time in GA. Based on morphological, biochemical and pharmacological data from humans and experimental animals, it is hypothesized that excitotoxin-mediated neuronal damage may account for the striatal degeneration, while toxic effect on myelin metabolism by the metabolic derangement of GA may explain the widespread white matter changes.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Autopsy
  • Child
  • Corpus Striatum / pathology*
  • Corpus Striatum / ultrastructure
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Myelin Sheath / ultrastructure*
  • Nerve Degeneration
  • Optic Nerve / pathology
  • Optic Nerve / ultrastructure
  • Oxidoreductases / deficiency*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Vacuoles / ultrastructure


  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase