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

✍ Scribed by Katrin Ergezinger; Reinhard Jeschke; Georg Frauendienst-Egger; Herbert Korall; K. Michael Gibson; Volker H. Schuster

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 98 KB
• Volume: 54
• Category: Article
• ISSN: 0364-5134
• DOI: 10.1002/ana.10752

✦ Synopsis

Abstract

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