Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
until further notice
SourceJournal of Inherited Metabolic Disease, 27, 2, (2004), pp. 291-293
Article / Letter to editor
Display more detailsDisplay less details
Journal of Inherited Metabolic Disease
SubjectUMCN 3.1: Neuromuscular development and genetic disorders; UMCN 5.1: Genetic defects of metabolism
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.
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.