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dc.contributor.authorReinecke, Carolus J.
dc.contributor.authorKoekemoer, Gerhard
dc.contributor.authorVan der Westhuizen, Francois H.
dc.contributor.authorLouw, Roan
dc.contributor.authorLindeque, Jeremie Z.
dc.contributor.authorMienie, Lodewyk J.
dc.contributor.authorSmuts, Izelle
dc.date.accessioned2016-05-27T11:21:36Z
dc.date.available2016-05-27T11:21:36Z
dc.date.issued2012
dc.identifier.citationReinecke, C.J. et al. 2012. Metabolomics of urinary organic acids in respiratory chain deficiencies in children. Metabolomics, 8:264-283. [https://doi.org/10.1007/s11306-011-0309-0]en_US
dc.identifier.issn1573-3882
dc.identifier.issn1573-3890 (Online)
dc.identifier.urihttp://hdl.handle.net/10394/17529
dc.identifier.urihttps://link.springer.com/article/10.1007/s11306-011-0309-0
dc.identifier.urihttps://doi.org/10.1007/s11306-011-0309-0
dc.description.abstractMetabolomic analysis of the urinary organic acids from 39 selected children with defined respiratory chain deficiencies (RCDs) was performed using untargeted gas chromatography–mass spectrometry, revealing the presence of 255 endogenous and 46 exogenous substances. Variable reduction identified 92 variables from the endogenous substances, which could be analysed by univariate and multivariate statistical methods. Using these methods, no characteristic organic acid biomarker profile could be defined of practical value for diagnostic purposes for complex I (CI), complex III (CIII) and multiple complex (CM) deficiencies. The statistical procedures used did, however, disclose 24 metabolites that were practical highly (d[0.75) and statistically (P\0.05) significant for the combined and clinically closely related group of RCDs. Several of these metabolites occur in single enzyme inherited metabolic diseases, but most were not previously reported to be linked to the metabolic perturbations that are due to RCDs. Ultimately, we constructed a global metabolic profile of carbohydrate, amino acid and fatty acid catabolism, illuminating the diverse and complex biochemical consequences of these disorders. This metabolomics investigation disclosed a metabolite profile that has the potential to define an extended and characteristic biosignature for RCDs and the development of a non-invasive screening procedure for these disordersen_US
dc.description.sponsorshipPart of BioPAD Project BPP007- South African Department of Science and Technology. North-West Universityen_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.subjectMetabolomicsen_US
dc.subjectrespiratory chain deficienciesen_US
dc.subjecturinary organic acidsen_US
dc.subjectdata reductionen_US
dc.subjectglobal metabolite profileen_US
dc.titleMetabolomics of urinary organic acids in respiratory chain deficiencies in childrenen_US
dc.typeArticleen_US
dc.contributor.researchID10055037 - Reinecke, Carolus Johannes
dc.contributor.researchID10213503 - Van der Westhuizen, Francois Hendrikus
dc.contributor.researchID10986707 - Louw, Roan
dc.contributor.researchID12662275 - Lindeque, Jeremie Zander
dc.contributor.researchID10061533 - Mienie, Lodewyk Jacobus
dc.contributor.researchID10096353 - Koekemoer, Gerhard


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