The variability of metabolite excretion in propionicacidaemia.
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.
D000592:Amino Acid Metabolism, Inborn Errors / Q000652:urine*; D002849:Chromatography, Gas; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D013058:Mass Spectrometry; D011422:Propionates / Q000652:urine*
D011422:Propionates