Glutaric aciduria type 1
one episode of seizure
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Widening of the Sylvian fissures with widening of CSF spaces anterior to temporal lobes
Bilateral frontal lobe atrophy noted
Case of glutaric acid uria 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).