Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency

Ann Neurol. 2004 Jan;55(1):7-12. doi: 10.1002/ana.10784.

Abstract

Glutaryl-CoA dehydrogenase deficiency is an inherited organic aciduria with predominantly neurological presentation. Biochemically, it is characterized by an accumulation and enhanced urinary excretion of two key organic acids, glutaric acid and 3-hydroxyglutaric acid. If untreated, acute striatal degeneration is often precipitated by febrile illnesses during a vulnerable period of brain development in infancy or early childhood, resulting in a dystonic dyskinetic movement disorder. The mechanism underlying these acute encephalopathic crises has been partially elucidated using in vitro and in vivo models. 3-Hydroxyglutaric and glutaric acids share structural similarities with the main excitatory amino acid glutamate and are considered to play an important role in the pathophysiology of this disease. 3-Hydroxyglutaric acid induces excitotoxic cell damage specifically via activation of N-methyl-D-aspartate receptors. Furthermore, glutaric and 3-hydroxyglutaric acids indirectly modulate glutamatergic and GABAergic neurotransmission, resulting in an imbalance of excitatory and inhibitory neurotransmission. It also has been suggested that secondary amplification loops potentiate the neurotoxic properties of these organic acids. Probable mechanisms for this effect include cytokine-stimulated nitric oxide production, a decrease in energy metabolism, and reduction of cellular creatine phosphate levels. Finally, maturation-dependent changes in the expression of neuronal glutamate receptors may affect the vulnerability to 3-hydroxyglutaric and glutaric acid toxicity.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / pathology
  • Amino Acid Metabolism, Inborn Errors / physiopathology*
  • Animals
  • Brain Diseases, Metabolic, Inborn / pathology
  • Brain Diseases, Metabolic, Inborn / physiopathology*
  • Child, Preschool
  • Glutarates / metabolism
  • Glutaryl-CoA Dehydrogenase
  • Humans
  • Infant
  • Models, Neurological
  • Nerve Degeneration / pathology
  • Nerve Degeneration / physiopathology*
  • Oxidoreductases Acting on CH-CH Group Donors / deficiency*

Substances

  • 3-hydroxyglutaric acid
  • Glutarates
  • Oxidoreductases Acting on CH-CH Group Donors
  • Glutaryl-CoA Dehydrogenase
  • glutaric acid