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

Ann Neurol. 2003 Nov;54(5):686-9. doi: 10.1002/ana.10752.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aldehyde Oxidoreductases / deficiency*
  • Child
  • Developmental Disabilities / etiology
  • Enzyme Inhibitors / therapeutic use*
  • Female
  • Humans
  • Hydroxybutyrates / analysis*
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / physiopathology
  • Succinate-Semialdehyde Dehydrogenase
  • Treatment Outcome
  • Vigabatrin / therapeutic use*

Substances

  • Enzyme Inhibitors
  • Hydroxybutyrates
  • 4-hydroxybutyric acid
  • Aldehyde Oxidoreductases
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase
  • Vigabatrin