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

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.

• Authors: N I Wolf, D Haas, G F Hoffmann, C Jakobs, G S Salomons, R A Wevers, U F Engelke, D Rating
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 27 Issue 2 Pg. 291-3 ( 2004) ISSN: 0141-8955 [Print] United States
• PMID: 15243989 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hydroxybutyrates
• Hypnotics and Sedatives
• 4-hydroxybutyric acid
• Aldehyde Oxidoreductases
• ALDH5A1 protein, human
• Succinate-Semialdehyde Dehydrogenase

Topics

• Aldehyde Oxidoreductases (deficiency)
• Child
• Consciousness Disorders (chemically induced, diagnosis, metabolism)
• Humans
• Hydroxybutyrates (adverse effects, blood, cerebrospinal fluid)
• Hypnotics and Sedatives (adverse effects, blood, cerebrospinal fluid)
• Male
• Metabolism, Inborn Errors (diagnosis, metabolism)
• Succinate-Semialdehyde Dehydrogenase