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Sedation with 4‐hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency
Author(s) -
Wolf N. I.,
Haas D.,
Hoffmann G. F.,
Jakobs C.,
Salomons G. S.,
Wevers R. A.,
Engelke U. F.,
Rating D.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000028842.15981.6e
Subject(s) - sedation , pharmacology , chemistry , medicine
Summary: 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.