4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy

J Inherit Metab Dis. 1993;16(3):520-2. doi: 10.1007/BF00711670.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Aldehyde Oxidoreductases / deficiency*
  • Anticonvulsants / therapeutic use*
  • Child
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / urine*
  • Nervous System Diseases / drug therapy
  • Nervous System Diseases / urine
  • Phenotype
  • Sodium Oxybate / urine*
  • Spectrometry, Fluorescence
  • Succinate-Semialdehyde Dehydrogenase
  • Vigabatrin
  • gamma-Aminobutyric Acid / analogs & derivatives*
  • gamma-Aminobutyric Acid / therapeutic use

Substances

  • Anticonvulsants
  • gamma-Aminobutyric Acid
  • Sodium Oxybate
  • Aldehyde Oxidoreductases
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase
  • Vigabatrin