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Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency
N I Wolf1, D Haas, G F Hoffmann
1Department of Paediatric Neurology, Division of Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
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.
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