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Journal of Chemical Technology and Applications | Volume 3
MASS SPECTROMETRY,
PROTEOMICS AND POLYMER CHEMISTRY
3
rd
International Conference on
Mass Spectrometry Congress 2019
METABOLOMICS PROFILES OF AUTISTIC CHILDREN’S URINE REVEALS ALTERED DOPA-
MINE AND NORADRENALINE LEVELS
Federica Gevi, Fanelli Giuseppina, Antonio Belardo, Sara Rinalducci
and
Timperio Anna Maria
University of Tuscia, Italy
A
utism spectrum disorders (ASDs) are a group of neurodevelopmental disorders consisting of a delayed or
altered language development and difficulties in social interactions. Beside clinical and social tests, met-
abolic abnormalities are frequently associated with ASD and their knowledge could help clinicians to provide
earlier and more reliable diagnosis. A considerable number (16,704) of urinary altered metabolites were re-
corded in autistic children, with 222 displaying the largest differences (p-value≤0.05 and fold change ≥1.5)
between young ASD children and controls. Several altered metabolic pathways have been implicated in the
disease, such as tryptophan, purines and pyrimidine’s; however, in this paper, altered level of the most import-
ant neurotransmitters have been discussed. The highest levels of dopamine and its metabolite, homovanillic
acid, indicated a dopamine β-hydroxylase enzyme block, probably due to presence of 4-cresol together with
a higher level of vitamin C, all revealed in the urine of autistic children. Moreover, the incorrect synthesis of
the active form of vitamin B6, pyridoxal-5’-phosphate was also detected, which is an essential co-factor for the
biotransformation of glutamate into GABA. The accumulation of glutamate and lower concentrations of GABA
were found in all of the autistic children examined.
Federica Gevi et al., J Chem Tech App 2019, Volume 3
Federica Gevi has completed her PhD in cellular biology at University of Tuscia, Italy. Currently she is a research RTDa of Tuscia Uni-
versity, Italy. She has 10 years of experience in the field of mass spectrometry-HPLC (MALDI TOF, Orbitrap, Q-TOF, amaZon ETD) in
protein identification, metabolomic and lipidomic characterizations in various biological samples. She has 23 publications that have
been cited over 300 times and her publication H-index is 10.
gevi@unitus.itBIOGRAPHY




