Late onset type of propionic acidaemia: case report and biochemical studies

J Inherit Metab Dis. 1981;4(2):71-2. doi: 10.1007/BF02263596.

Abstract

A late-onset case of propionic acidaemia with favourable response to restriction of dietary protein is described. During a keto-acidotic crisis, this patient demonstrated unexpectedly low concentrations of propionic acid and glycine in blood and urine but increased urinary output of some secondary metabolites.

Publication types

  • Case Reports

MeSH terms

  • Acidosis / metabolism*
  • Amino Acid Metabolism, Inborn Errors
  • Carbon-Carbon Ligases*
  • Female
  • Glycine / analogs & derivatives
  • Glycine / blood
  • Glycine / urine
  • Humans
  • Hydroxybutyrates / urine
  • Infant
  • Ketosis / metabolism
  • Ligases / deficiency*
  • Propionates / blood*

Substances

  • Hydroxybutyrates
  • Propionates
  • tiglylglycine
  • 2-methyl-3-hydroxybutyric acid
  • Ligases
  • Carbon-Carbon Ligases
  • propionyl CoA carboxylase (ATP-hydrolyzing)
  • propionic acid
  • Glycine