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)
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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