title: 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.affiliation: Department of Paediatric Neurology, Division of Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
authors.forename: N I
authors.initials: NI
authors.lastname: Wolf
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: G F
authors.initials: GF
authors.lastname: Hoffmann
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: R A
authors.initials: RA
authors.lastname: Wevers
authors.forename: U F
authors.initials: UF
authors.lastname: Engelke
authors.forename: D
authors.initials: D
authors.lastname: Rating
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D002648:Child; D003244:Consciousness Disorders / Q000139:chemically induced* / Q000175:diagnosis / Q000378:metabolism; D006801:Humans; D006885:Hydroxybutyrates / Q000009:adverse effects* / Q000097:blood / Q000134:cerebrospinal fluid; D006993:Hypnotics and Sedatives / Q000009:adverse effects* / Q000097:blood / Q000134:cerebrospinal fluid; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism; D050644:Succinate-Semialdehyde Dehydrogenase
chemical_list: D006885:Hydroxybutyrates; D006993:Hypnotics and Sedatives; C111420:4-hydroxybutyric acid; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase