Monitoring of 4-hydroxybutyric acid levels in body fluids during vigabatrin treatment in succinic semialdehyde dehydrogenase deficiency.
case_report · Level V
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Abstract
We report the successful treatment using low-dose vigabatrin (21.5-34 mg/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.
Medical subject headings
- Aldehyde Oxidoreductases
- Enzyme Inhibitors
- Hydroxybutyrates
- Metabolism, Inborn Errors
- Vigabatrin