Glutaric aciduria type 1

Case contributed by Aditya Shetty
Diagnosis almost certain


One episode of seizure

Patient Data

Age: Neonate
Gender: Female

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)

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