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  • Title: The variability of metabolite excretion in propionicacidaemia.
    Author: Duran M, Gompertz D, Bruinvis L, Ketting D, Wadman SK.
    Journal: Clin Chim Acta; 1978 Jan 02; 82(1-2):93-9. PubMed ID: 618687.
    Abstract:
    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.
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