The pathomechanisms of ASD have not yet been elucidated; metabolic disorders may play a role. Thanks to innovative methods such as the mass spectrometry and the statistical possibilities of large-scale data analysis, the metabolomics method is finding an increasingly widespread application in current medical research. Metabolomics involves the determination of the concentration of endogenous molecules of low molecular weight, allows the simultaneous determination of a large number of products of cellular metabolism in different types of biological material and evaluates metabolic pathways… More

Spectrum of acylcarnitines and ASD

It is hypothesized that one of the possible pathomechanisms of ASD may be mitochondrial dysfunction in some children. Acylcarnitines are markers of mitochondrial function. The aim of the pilot metabolomics study was to monitor the levels of amino acids and acylcarnitines in dry blood drop in children with ASD. The results of the pilot study point to differences in the levels of monitored metabolites and suggest mitochondrial dysfunction in children with ASD compared to children without ASD. The results are the basis for our further research aimed at identifying their role in the pathomechanisms of autism and the possibility of their use as potential markers in the diagnosis of autism spectrum disorders.

Olesova D, Galba J, Piestansky J, Celusakova H, Repiska G, Babinska K, Ostatnikova D, Katina S, Kovac A.Olesova D, et al. A Novel UHPLC-MS Method Targeting Urinary Metabolomic Markers for Autism Spectrum Disorder. Metabolites. 2020 Nov 2;10(11):443

Vidošovičová M, Addová G, Górová R, Harman R, Árvai M, Waczulíková I, Ostatníková D, Babinská K. Profil aminokyselín a acylkarnitínov v suchej kvapke krvi u detí s poruchou autistického spektra. Zborník príspevkov, 95. Fyziologické dni, Praha 2019.