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

Nicole I. Wolf*, D. Haas, G. F. Hoffmann, C. Jakobs, G. S. Salomons, R. A. Wevers, U. F. Engelke, D. Rating

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)291-293
Number of pages3
JournalJournal of Inherited Metabolic Disease
Issue number2
Publication statusPublished - 2004

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