dc.contributor.author | Smuts, Izelle | |
dc.contributor.author | Van der Westhuizen, Francois H. | |
dc.contributor.author | Louw, Roan | |
dc.contributor.author | Mienie, Lodewyk J. | |
dc.contributor.author | Mason, Shayne | |
dc.contributor.author | Koekemoer, Gerhard | |
dc.contributor.author | Reinecke, Carolus J. | |
dc.date.accessioned | 2015-10-07T10:01:06Z | |
dc.date.available | 2015-10-07T10:01:06Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | Smut, 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.issn | 1573-3882 | |
dc.identifier.issn | 1573-3890 (Online) | |
dc.identifier.uri | http://hdl.handle.net/10394/14681 | |
dc.identifier.uri | https://doi.org/10.1007/s11306-012-0455-z | |
dc.identifier.uri | https://link.springer.com/article/10.1007/s11306-012-0455-z | |
dc.description.abstract | The 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.iso | en | en_US |
dc.publisher | Springer | en_US |
dc.subject | Metabolomics | en_US |
dc.subject | respiratory chain disorders | en_US |
dc.subject | urinary organic acids | en_US |
dc.subject | urinary amino acids | en_US |
dc.subject | data reduction | en_US |
dc.subject | biosignature | en_US |
dc.title | Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach | en_US |
dc.type | Article | en_US |
dc.contributor.researchID | 10213503 - Van der Westhuizen, Francois Hendrikus | |
dc.contributor.researchID | 10986707 - Louw, Roan | |
dc.contributor.researchID | 10061533 - Mienie, Lodewyk Jacobus | |
dc.contributor.researchID | 10055037 - Reinecke, Carolus Johannes | |
dc.contributor.researchID | 21487855 - Mason, Shayne William | |
dc.contributor.researchID | 10096353 - Koekemoer, Gerhard | |