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:https://doi.org/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

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

8 Citations (Scopus)

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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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.",

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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

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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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DO - https://doi.org/10.1023/B:BOLI.0000028842.15981.6e

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SN - 0141-8955

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EP - 293

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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