Case of glutaric aciduria type 1
- a 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)