Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications.

Autor: Indika NR; Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, 10250, Sri Lanka. ind.liyanage@sjp.ac.lk., Senarathne UD; Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura, Nugegoda, 10250, Sri Lanka.; Department of Chemical Pathology, Monash Health Pathology, Monash Health, Clayton, Victoria, Australia., Malvaso A; IRCCS 'C. Mondino' Foundation, National Neurological Institute, Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Darshana D; Department of Pharmacy, Faculty of Allied Health Sciences, University of Ruhuna, Galle, Sri Lanka., Owens SC; Autism Oxalate Project, Autism Research Institute, San Diego, CA, USA., Mansouri B; Substance Abuse Prevention Research Center, Research Institute for Health, Kermanshah University of Medical Sciences, Kermanshah, Iran., Semenova Y; Nazarbayev University School of Medicine, Astana, Kazakhstan., Bjørklund G; Council for Nutritional and Environmental Medicine, Toften 24, 8610, Mo i Rana, Norway. bjorklund@conem.org.
Jazyk: angličtina
Zdroj: Molecular neurobiology [Mol Neurobiol] 2024 Jul; Vol. 61 (7), pp. 3851-3866. Date of Electronic Publication: 2023 Nov 30.
DOI: 10.1007/s12035-023-03722-z
Abstrakt: Autism spectrum disorder (ASD) is a mosaic of neurodevelopmental conditions composed of early-onset social interaction and communication deficits, along with repetitive and/or restricted patterns of activities, behavior, and interests. ASD affects around 1% of children worldwide, with a male predominance. Energy, porphyrin, and neurotransmitter homeostasis are the key metabolic pathways affected by heavy metal exposure, potentially implicated in the pathogenesis of ASD. Exposure to heavy metals can lead to an altered porphyrin metabolism due to enzyme inhibition by heavy metals. Heavy metal exposure, inborn genetic susceptibility, and abnormal thiol and selenol metabolism may play a significant role in the urinary porphyrin profile anomalies observed in ASD. Altered porphyrin metabolism in ASD may also be associated with, vitamin B6 deficiency, hyperoxalemia, hyperhomocysteinemia, and hypomagnesemia. The present review considers the abnormal porphyrin metabolism in ASD in relation to the potential pathogenic mechanism and discusses the possible metabolic therapies such as vitamins, minerals, cofactors, and antioxidants that need to be explored in future research. Such targeted therapeutic therapies would bring about favorable outcomes such as improvements in core and co-occurring symptoms.
(© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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