Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.
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.
Wolf
N I
NI
Department of Paediatric Neurology, Division of Metabolic Disorders, University Children's Hospital, Heidelberg, Germany. nicole.wolf@med.uni-heidelberg.de
Haas
D
D
Hoffmann
G F
GF
Jakobs
C
C
Salomons
G S
GS
Wevers
R A
RA
Engelke
U F
UF
Rating
D
D
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
D006885:Hydroxybutyrates; D006993:Hypnotics and Sedatives; C111420:4-hydroxybutyric acid; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase