PMID: 15243989Jul 13, 2004Paper

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency

Journal of Inherited Metabolic Disease
N I WolfD Rating

Abstract

Deficiency of succinic semialdehyde dehydrogenase (SSADH) is a rare neurometabolic disorder with accumulation of 4-hydroxybutyric acid (4-HBA) as a biochemical hallmark. We present a boy with an unresolved severe neurological disorder and intermittent elevation of 4-HBA in serum and CSF which was later shown to result from iatrogenic administration of 4-HBA for sedation purposes.

References

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