A case of acute onset succinic semialdehyde dehydrogenase deficiency: neuroimaging findings and literature review.

Kevin Y WangPeter B BarkerDoris Da May Lin

Published in: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2015)

The unique early imaging findings described here may be attributable to bioenergetic failure and deficiency in mitochondrial energy metabolism and are consistent with SSADH-knockout mice studies.

Keyphrases

liver failure
high resolution
oxidative stress
replacement therapy
case report
respiratory failure
drug induced
aortic dissection
mass spectrometry
case control