Metabolism & Biomarkers

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Metabolism & Biomarkers2023-02-11T03:14:40+00:00

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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Autism Parents

Published Articles

Results are displayed in descending order beginning with most recent publications.

Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders

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Nanda, H.; Frye, R.E. Synchrony 2022: Catalyzing Research and Treatments to Benefit Individuals with Neurodevelopmental Disorders including Autism Spectrum Disorders. J. Pers. Med. 2023, 13, 490. https://doi.org/10.3390/jpm13030490

Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders

Categories: Published Articles|Tags: , , |

Senarathne, U.D.; Indika, N.-L.R.; Jezela-Stanek, A.; Ciara, E.; Frye, R.E.; Chen, C.; Stepien, K.M. Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders. Genes 2023, 14, 803. https://doi.org/10.3390/genes14040803

Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis

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Brister D, Werner BA, Gideon G, McCarty PJ, Lane A, Burrows BT, McLees S, Adelson PD, Arango JI, Marsh W, Flores A, Pankratz MT, Ly NH, Flood M, Brown D, Carpentieri D, Jin Y, Gu H, Frye RE. Central Nervous System Metabolism in Autism, Epilepsy and Developmental Delays: A Cerebrospinal Fluid Analysis. Metabolites. 2022 Apr 20;12(5):371. doi: 10.3390/metabo12050371. PMID: 35629876; PMCID: PMC9148155.

Prenatal air pollution influences neurodevelopment and behavior in autism spectrum disorder by modulating mitochondrial physiology

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Frye RE, Cakir J, Rose S, Delhey L, Bennuri SC, Tippett M, Melnyk S, James SJ, Palmer RF, Austin C, Curtin P, Arora M. Mol Psychiatry. 2021 May;26(5):1561-1577. doi: 10.1038/s41380-020-00885-2. Epub 2020 Sep 22. PMID: 32963337; PMCID: PMC8159748.

Early life metal exposure dysregulates cellular bioenergetics in children with regressive autism spectrum disorder

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Frye RE, Cakir J, Rose S, Delhey L, Bennuri SC, Tippett M, Palmer RF, Austin C, Curtin P, Arora M. Transl Psychiatry. 2020 Jul 7;10(1):223. doi: 10.1038/s41398-020-00905-3. PMID: 32636364; PMCID: PMC7341836.

Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism

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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

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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.

Other Resources

BEYOND BEHAVIORAL EVALUATIONS

from Autism File

Cunningham Panel

Categories: Clinical Protocols, Laboratory Tests|Tags: , , , , |

Cunningham Panel

This test measures the levels of four proteins called autoantibodies and the activity of one enzyme protein. The four autoantibodies are believed to attach to nerve cells in the brain and cause them to function abnormally while the activity of the enzyme known as CamKinase II is believe to interfere with the function of nerve cells if its activity is too high. These measurements are complicated to interpret so you should discuss them with you doctor.

Mitochondrial Cheek Swab Test (MITOSWAB)

Categories: Clinical Protocols, Laboratory Tests|Tags: , , , |

Mitochondrial Cheek Swab Test (MITOSWAB)

This test measures three activity enzyme proteins in the powerhouse of the cells in your body known as the mitochondria. The three enzyme proteins are called citrate synthase, complex I and complex IV. There will also be a measurement of the total amount of protein collected by the swab to make sure that there is enough protein for a valid measurement. The activity of the three proteins that are measures can be normal, abnormally low or abnormally high. These measurements are complicated to interpret so you should discuss them with you doctor.

Folate Receptor Alpha Autoantibody Test (FRAT)

Categories: Clinical Protocols, Laboratory Tests|Tags: , , , |

Folate Receptor Alpha Autoantibody Test (FRAT)

This test measures two proteins in the blood called autoantibodies whichinterfere with the ability of the vitamin folate to be used by the brain and other parts of the body.The two autoantibodies are called ‘blocking’ and ‘blinding’ and then each may be ‘negative’, ‘low’, ‘medium’ or ‘high.’

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