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| Title: | 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. (068311508)
Engelke, U.F.H. (298974649)
Rating, D. |
| Publication year: | 2004 |
| Document type: | Article / Letter to editor |
| Journal: | Journal of Inherited Metabolic Disease |
| ISSN: | 0141-8955 |
| Volume: | vol. 27 |
| Issue: | iss. 2 |
| Start page: | p. 291 |
| End page: | p. 293 |
| 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. |
| Subject: | UMCN 3.1: Neuromuscular development and genetic disorders
UMCN 5.1: Genetic defects of metabolism |
| Organization: | UMCN Extern
Neurology
Paediatrics |
| Appears in Collections: | Academic bibliography
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/57529
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