Glutaric aciduria type 1


Case of glutaric acid uria type 1

  • leukodystrophy that can be sub-classified as an organic acidopathy.
  • Glutaric aciduria type I is caused by an inherited deficiency of the enzyme glutaryl-CoA dehydrogenase.
  • This leads to accumulation of glutaric acid and 3-hydroxyglutaric acid in the brain and body fluids, including urine (hence the name glutaric aciduria).