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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Metabolomics of urinary organic acids in respiratory chain deficiencies in children
Metabolomics, Volume 8, No. 2, Year 2012
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Description
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. © 2011 Springer Science+Business Media, LLC.
Authors & Co-Authors
Reinecke, Carolus J.
South Africa, Potchefstroom
North-west University
Koekemoer, Gerhard
South Africa, Potchefstroom
North-west University
Van Der Westhuizen, F. H.
South Africa, Potchefstroom
North-west University
Louw, Roan
South Africa, Potchefstroom
North-west University
Lindeque, Zander
South Africa, Potchefstroom
North-west University
Mienie, L. J.
South Africa, Potchefstroom
North-west University
Smuts, Izelle
South Africa, Pretoria
University of Pretoria
Statistics
Citations: 76
Authors: 7
Affiliations: 2
Identifiers
Doi:
10.1007/s11306-011-0309-0
ISSN:
15733882
Research Areas
Maternal And Child Health
Noncommunicable Diseases