Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency

J Inherit Metab Dis. 2004;27(2):291-3. doi: 10.1023/b:boli.0000028842.15981.6e.

Abstract

Deficiency of succinic semialdehyde dehydrogenase (SSADH) is a rare neurometabolic disorder with accumulation of 4-hydroxybutyric acid (4-HBA) as a biochemical hallmark. We present a boy with an unresolved severe neurological disorder and intermittent elevation of 4-HBA in serum and CSF which was later shown to result from iatrogenic administration of 4-HBA for sedation purposes.

Publication types

  • Case Reports

MeSH terms

  • Aldehyde Oxidoreductases / deficiency*
  • Child
  • Consciousness Disorders / chemically induced*
  • Consciousness Disorders / diagnosis
  • Consciousness Disorders / metabolism
  • Humans
  • Hydroxybutyrates / adverse effects*
  • Hydroxybutyrates / blood
  • Hydroxybutyrates / cerebrospinal fluid
  • Hypnotics and Sedatives / adverse effects*
  • Hypnotics and Sedatives / blood
  • Hypnotics and Sedatives / cerebrospinal fluid
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / metabolism
  • Succinate-Semialdehyde Dehydrogenase

Substances

  • Hydroxybutyrates
  • Hypnotics and Sedatives
  • 4-hydroxybutyric acid
  • Aldehyde Oxidoreductases
  • ALDH5A1 protein, human
  • Succinate-Semialdehyde Dehydrogenase