REDOX IMBALANCE IN METABOLIC DISORDERS: A GAZIANTEP-BASED INVESTIGATION

Abstract

Metabolic disorders, characterized by disruptions in energy and redox balance, represent a significant burden on human health. Among these, Maple Syrup Urine Disease (MSUD) and Phenylketonuria (PKU) are prominent examples of autosomal recessive disorders arising from deficiencies in branched chain α-ketoacid dehydrogenase complex and phenylalanine hydroxylase activity, respectively (Stepien, et al., 2017). While reactive oxygen species (ROS) and reactive nitrogen species (RNS) are essential for normal physiological processes, their dysregulation can lead to oxidative and nitrosative stress, causing cellular damage when the antioxidant defense system is compromised or when there is an increase in the production of these free radicals (Taysi, Cikman, et al., 2008; Taysi, Tascan, Ugur, & Demir, 2019). This review delves into the intricacies of the interplay between metabolic disorders and the disturbances in redox homeostasis, shedding light on the molecular mechanisms underlying the pathogenesis of these diseases. By elucidating the role of oxidative and nitrosative stress in the context of MSUD and PKU, this study aims to provide a comprehensive understanding of the potential therapeutic strategies that could be targeted to mitigate the detrimental effects of these metabolic disorders