The variability of metabolite excretion in propionicacidaemia

Clin Chim Acta. 1978 Jan 2;82(1-2):93-9. doi: 10.1016/0009-8981(78)90030-x.


Random urine samples from eight patients with propionicacidaemia were analyzed by gas chromatography and mass spectrometry in order to see if a consistent metabolite pattern with a high diagnostic value could be found. However, wide variations were observed. The presence of 3-hydroxypropionate and/or methylcitrate were considered to be diagnostic of propionyl-CoA carboxylase deficiency. In addition, samples from ketotic periods frequently contained 3-hydroxy-n-valerate and 3-oxo-n-valerate.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / urine*
  • Chromatography, Gas
  • Humans
  • Infant
  • Infant, Newborn
  • Mass Spectrometry
  • Propionates / urine*


  • Propionates