Metabolism & Biomarkers
Autism is associated with an imbalance in glutathione-dependent redox metabolism. Glutathione synthesis and intracellular redox balance are linked to folate and methylation metabolism, metabolic pathways that have also been shown to be abnormal in ASD. Together, these metabolic abnormalities define a distinct ASD endophenotype that is closely associated with genetic, epigenetic and mitochondrial abnormalities, as well as environmental factors related to ASD. Biomarkers that reflect these metabolic abnormalities have recently been investigated to find ASD metabolic endophenotype that may lead to a better understanding of the pathophysiological mechanisms underlying core and associated ASD symptoms and may lead to new treatments.
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Published Articles
Results are displayed in descending order beginning with most recent publications.
Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism
Connery K, Tippett M, Delhey LM, Rose S, Slattery JC, Kahler SG, Hahn J, Kruger U, Cunningham MW, Shimasaki C, Frye RE. Transl Psychiatry. 2018 Aug 10;8(1):148. doi: 10.1038/s41398-018-0214-7. PMID: 30097568; PMCID: PMC6086890.
Multivariate techniques enable a biochemical classification of children with autism spectrum disorder versus typically-developing peers: A comparison and validation study
Howsmon DP, Vargason T, Rubin RA, Delhey L, Tippett M, Rose S, Bennuri SC, Slattery JC, Melnyk S, James SJ, Frye RE, Hahn J. Bioeng Transl Med. 2018 Jun 19;3(2):156-165. doi: 10.1002/btm2.10095. PMID: 30065970; PMCID: PMC6063877.
Novel biomarkers of metabolic dysfunction is autism spectrum disorder: potential for biological diagnostic markers
Khemakhem AM, Frye RE, El-Ansary A, Al-Ayadhi L, Bacha AB. Metab Brain Dis. 2017 Dec;32(6):1983-1997. doi: 10.1007/s11011-017-0085-2. Epub 2017 Aug 22. PMID: 28831647.
Folate metabolism abnormalities in autism: potential biomarkers
Frye RE, Slattery JC, Quadros EV. Biomark Med. 2017 Aug;11(8):687-699. doi: 10.2217/bmm-2017-0109. Epub 2017 Aug 3. PMID: 28770615.
Bioenergetic variation is related to autism symptomatology.
Delhey, L., Kilinc, E.N., Yin, L., Slattery, J., Tippett, M., Wynne, R., Rose, S., Kahler, S., Damle, S., Legido, A., Goldenthal, M.J., Frye, R.E.. Metab Brain Dis. 2017; 32(6):2021-2031.
Mitochondrial and redox abnormalities in autism lymphoblastoid cells: a sibling control study
Rose S, Bennuri SC, Wynne R, Melnyk S, James SJ, Frye RE. FASEB J. 2017; 31(3):904-909.
Blocking and Binding Folate Receptor Alpha Autoantibodies Identify Novel Autism Spectrum Disorder Subgroups
Frye RE, Delhey L, Slattery J, Tippett M, Wynne R, Rose S, Kahler SG, Bennuri SC, Melnyk S, Sequeira JM, Quadros E. Front Neurosci. 2016; 10:80.
Redox Metabolism Abnormalities in Autistic Children Associated with Mitochondrial Disease
Frye, R.E., DeLaTorre, R. Taylor, H. Slattery, J., Melnyk, S. James, S.J.Translational Psychiatry, 2013 3:e273. DOI: 10.1038/tp.2013.51. PMID: 23778583
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
Frye, R.E., Melnyk, S., Macfabe, D.F. Transl Psychiatry. 2013; 3:e220.