Glutaric aciduria type 1

Case contributed by Dr Aditya Shetty

Presentation

one episode of seizure

Patient Data

Age: neonate
Gender: Female
Modality: MRI

Widening of the Sylvian fissures with widening of CSF spaces anterior to temporal lobes

Bilateral frontal lobe atrophy noted

Case Discussion

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).
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Case Information

rID: 28753
Case created: 10th Apr 2014
Last edited: 4th Oct 2015
Tag: shetty
Inclusion in quiz mode: Included

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