Presentation
One episode of seizure
Patient Data
Age: Neonate
Gender: Female
From the case:
Glutaric aciduria type 1
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Widening of the Sylvian fissures with widening of CSF spaces anterior to temporal lobes.
Bilateral frontal lobe atrophy noted.
Case Discussion
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)