dc.contributor.author | Reinecke, Carolus J. | |
dc.contributor.author | Koekemoer, Gerhard | |
dc.contributor.author | Van der Westhuizen, Francois H. | |
dc.contributor.author | Louw, Roan | |
dc.contributor.author | Lindeque, Jeremie Z. | |
dc.contributor.author | Mienie, Lodewyk J. | |
dc.contributor.author | Smuts, Izelle | |
dc.date.accessioned | 2016-05-27T11:21:36Z | |
dc.date.available | 2016-05-27T11:21:36Z | |
dc.date.issued | 2012 | |
dc.identifier.citation | Reinecke, 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.issn | 1573-3882 | |
dc.identifier.issn | 1573-3890 (Online) | |
dc.identifier.uri | http://hdl.handle.net/10394/17529 | |
dc.identifier.uri | https://link.springer.com/article/10.1007/s11306-011-0309-0 | |
dc.identifier.uri | https://doi.org/10.1007/s11306-011-0309-0 | |
dc.description.abstract | Metabolomic 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
disorders | en_US |
dc.description.sponsorship | Part of BioPAD Project BPP007- South African Department of Science and Technology. North-West University | en_US |
dc.language.iso | en | en_US |
dc.publisher | Springer | en_US |
dc.subject | Metabolomics | en_US |
dc.subject | respiratory chain deficiencies | en_US |
dc.subject | urinary organic acids | en_US |
dc.subject | data reduction | en_US |
dc.subject | global metabolite profile | en_US |
dc.title | Metabolomics of urinary organic acids in respiratory chain deficiencies in children | en_US |
dc.type | Article | en_US |
dc.contributor.researchID | 10055037 - Reinecke, Carolus Johannes | |
dc.contributor.researchID | 10213503 - Van der Westhuizen, Francois Hendrikus | |
dc.contributor.researchID | 10986707 - Louw, Roan | |
dc.contributor.researchID | 12662275 - Lindeque, Jeremie Zander | |
dc.contributor.researchID | 10061533 - Mienie, Lodewyk Jacobus | |
dc.contributor.researchID | 10096353 - Koekemoer, Gerhard | |