Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency

Nicole I. Wolf; D. Haas; G. F. Hoffmann; C. Jakobs; G. S. Salomons; R. A. Wevers; U. F. Engelke; D. Rating

doi:10.1023/B:BOLI.0000028842.15981.6e

Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency

Nicole I. Wolf^*, D. Haas, G. F. Hoffmann, C. Jakobs, G. S. Salomons, R. A. Wevers, U. F. Engelke, D. Rating

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	291-293
Number of pages	3
Journal	Journal of Inherited Metabolic Disease
Volume	27
Issue number	2
DOIs	https://doi.org/10.1023/B:BOLI.0000028842.15981.6e
Publication status	Published - 2004

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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.",

author = "Wolf, {Nicole I.} and D. Haas and Hoffmann, {G. F.} and C. Jakobs and Salomons, {G. S.} and Wevers, {R. A.} and Engelke, {U. F.} and D. Rating",

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volume = "27",

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T1 - Sedation with 4-hydroxybutyric acid

T2 - A potential pitfall in the diagnosis of SSADH deficiency

AU - Wolf, Nicole I.

AU - Haas, D.

AU - Hoffmann, G. F.

AU - Jakobs, C.

AU - Salomons, G. S.

AU - Wevers, R. A.

AU - Engelke, U. F.

AU - Rating, D.

PY - 2004

Y1 - 2004

N2 - 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.

AB - 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.

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U2 - 10.1023/B:BOLI.0000028842.15981.6e

DO - 10.1023/B:BOLI.0000028842.15981.6e

M3 - Article

C2 - 15243989

AN - SCOPUS:2942566189

SN - 0141-8955

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JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 2

ER -

Sedation with 4-hydroxybutyric acid: A potential pitfall in the diagnosis of SSADH deficiency

Abstract

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