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Qualitative determination of organic acid profile in urine by GC-MS technique

  • Test objective: Analysis of the organic acid profile (OAP) that enables the identification of over 40 inherited metabolic disorders and other diseases by detecting specific pathologic metabolites present in urine.
  • Method of testing: Gas chromatography coupled with mass spectrometry (GC/MS)
  • Analysed substances:
    The analysis is performed in scanning mode, where a full mass spectrum is collected within a specific range. Therefore, all substances present in the urine sample, both physiological and pathological, are measured. Based on the analysis of the obtained chromatogram, by comparing the mass spectra with a library and considering available clinical data, relative concentrations of several hundred organic compounds are evaluated, including:
    • glycolysis metabolites: lactic acid, pyruvic acid
    • citric acid cycle metabolites: citric acid, 2-ketoglutaric acid, succinic acid, malic acid, fumaric acid
    • beta-oxidation metabolites (ketones and fatty acids): 3-hydroxybutyric acid, acetoacetic acid, adipic acid, suberic acid, sebacic acid, ethylmalonic acid, methylsuccinic acid
    • protein metabolism products: 3-hydroxyisovaleric acid, 2-oxoisovaleric acid, 3-methyl-2-oxovaleric acid, 2-hydroxyisocaproic acid, 2-oxoisocaproic acid, 2-oxo-4-methylpentanoic acid, phenylpyruvic acid, phenylacetic acid, homogentisic acid, 4-hydroxyphenylpyruvic acid, N-acetylaspartic acid, malonic acid, methylmalonic acid, 4-hydroxybutyric acid
    • neurotransmitter metabolites: homovanillic acid, vanillylmandelic acid, 5-hydroxyindoleacetic acid, kynurenic acid
    • detoxification metabolites: pyroglutamic acid, benzoic acid, orotic acid, 2-hydroxyhippuric acid
    • bacterial metabolites: hippuric acid, p-hydroxyphenylacetic acid, 4-hydroxybenzoic acid, 4-hydroxyhippuric acid, cresol
    • oxalate metabolites: glyceric acid, glycolic acid, oxalic acid
    • pyrimidine metabolites: uracil, dihydrouracil, thymine, dihydrothymine
  • Type of test material: Urine (single urine sample)
  • Test category: Metabolomics