Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency

We report the successful treatment using low‐dose vigabatrin (21.5–34mg/kg/day) of a 10‐year‐old girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4‐hydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased in parallel wi...

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Veröffentlicht in:	Annals of neurology 2003-11, Vol.54 (5), p.686-689
Hauptverfasser:	Ergezinger, Katrin, Jeschke, Reinhard, Frauendienst-Egger, Georg, Korall, Herbert, Gibson, K. Michael, Schuster, Volker H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aldehyde Oxidoreductases - deficiency Biological and medical sciences Child Developmental Disabilities - etiology Enzyme Inhibitors - therapeutic use Female Humans Hydroxybutyrates - analysis Immunomodulators Medical sciences Metabolism, Inborn Errors - drug therapy Metabolism, Inborn Errors - physiopathology Pharmacology. Drug treatments Succinate-Semialdehyde Dehydrogenase Treatment Outcome Vigabatrin - therapeutic use
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Zusammenfassung:	We report the successful treatment using low‐dose vigabatrin (21.5–34mg/kg/day) of a 10‐year‐old girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4‐hydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased in parallel with significant clinical improvement. Our results suggest that GHB quantification in physiological fluids may be a useful laboratory parameter for monitoring efficacy of vigabatrin treatment in SSADH deficiency. Ann Neurol 2003;54:686–689
ISSN:	0364-5134 1531-8249
DOI:	10.1002/ana.10752