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dc.contributor.authorSmuts, Izelle
dc.contributor.authorVan der Westhuizen, Francois H.
dc.contributor.authorLouw, Roan
dc.contributor.authorMienie, Lodewyk J.
dc.contributor.authorMason, Shayne
dc.contributor.authorKoekemoer, Gerhard
dc.contributor.authorReinecke, Carolus J.
dc.date.accessioned2015-10-07T10:01:06Z
dc.date.available2015-10-07T10:01:06Z
dc.date.issued2013
dc.identifier.citationSmut, I. et al. 2013. Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach. Metabolomics, 9(2):379-391. [https://doi.org/10.1007/s11306-012-0455-z]en_US
dc.identifier.issn1573-3882
dc.identifier.issn1573-3890 (Online)
dc.identifier.urihttp://hdl.handle.net/10394/14681
dc.identifier.urihttps://doi.org/10.1007/s11306-012-0455-z
dc.identifier.urihttps://link.springer.com/article/10.1007/s11306-012-0455-z
dc.description.abstractThe diagnosis of respiratory chain deficiencies (RCDs) is complicated and the need for a diagnostic biomarker or biosignature has been widely expressed. In this study, the metabolic profile of a selected group of 29 RCD patients,with a predominantlymuscle disease phenotype, and 22 controls were investigated using targeted and untargeted analyses of three sub-sections of the human metabolome, including urinary organic acids and amino acids [measured by gas chromatography–mass spectrometry (GC–MS)], as well as acylcarnitines (measured by electrospray ionization tandem MS). Although MS technologies are highly sensitive and selective, they are restrictive by being applied only to subsections of the metabolome; an untargeted nuclear magnetic resonance (NMR) spectroscopy approach was therefore also included. After data reduction and pre-treatment, a biosignature comprising six organic acids (lactic, succinic, 2-hydroxyglutaric, 3-hydroxyisobutyric, 3-hydroxyisovaleric and 3-hydroxy-3-methylglutaric acids), six amino acids (alanine, glycine, glutamic acid, serine, tyrosine and a-aminoadipic acid) and creatine,was constructed fromuni- and multivariate statistical analyses and verified by cross-validation. The results presented here provide the first proof-of-concept that the metabolomics approach is capable of defining a biosignature for RCDs. We postulate that the composite of organic acids & amino acids[creatine[betaine[carnitines represents the basic biosignature for RCDs. Validated through a prospective study, this could offer an improved ability to assign individual patients to a group with defined RCD characteristics and improve case selection for biopsy procedures, especially in infants and children.en_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.subjectMetabolomicsen_US
dc.subjectrespiratory chain disordersen_US
dc.subjecturinary organic acidsen_US
dc.subjecturinary amino acidsen_US
dc.subjectdata reductionen_US
dc.subjectbiosignatureen_US
dc.titleDisclosure of a putative biosignature for respiratory chain disorders through a metabolomics approachen_US
dc.typeArticleen_US
dc.contributor.researchID10213503 - Van der Westhuizen, Francois Hendrikus
dc.contributor.researchID10986707 - Louw, Roan
dc.contributor.researchID10061533 - Mienie, Lodewyk Jacobus
dc.contributor.researchID10055037 - Reinecke, Carolus Johannes
dc.contributor.researchID21487855 - Mason, Shayne William
dc.contributor.researchID10096353 - Koekemoer, Gerhard


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