| Literature DB >> 15243989 |
N I Wolf1, D Haas, G F Hoffmann, C Jakobs, G S Salomons, R A Wevers, U F Engelke, D Rating.
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.Entities:
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Year: 2004 PMID： 15243989 DOI： 10.1023/b:boli.0000028842.15981.6e
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982