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• W3121556847 abstract "India, resembling other developing nations, is confronting a hastening demographic switch to non-communicable diseases. Inborn errors of metabolism (IEM) constitute a varied heterogeneous group of disorders with variable clinical appearance, primarily in the pediatric populace. Congenital deformities and genetic disorders are significant for mortality throughout the world, and the Indian scenario is not very different. IEMs are a group of monogenic issues described by dysregulation of the metabolic networks that bring about development and homeostasis. Incipient evidence focuses on oxidative stress and mitochondrial dysfunction as significant contributors to the multiorgan modifications are detected in a few IEMs. The amassing of toxic metabolites in organic acidurias, respiratory chain, and fatty acid oxidation ailments inhibit mitochondrial enzymes and processes, bringing about elevated levels of reactive oxygen species (ROS). In different IEMs, as in homocystinuria, various sources of ROS have been suggested. In patients' samples along with cellular and experimental animal models, a few investigations have recognized substantial increments in ROS levels alongside diminishes in antioxidant defenses, relating with oxidative damage to proteins, lipids as well as DNA. Elevated ROS levels interrupt redox signaling pathways controlling biological processes such as cell development, differentiation, or apoptosis; however, few investigations explore these processes in IEMs. This review depicts the mitochondrial dysfunction, oxidative stress, redox signaling in branched-chain amino acid disorders, further organic acidurias, and homocystinuria, alongside the latest research investigating the proficiency of antioxidants in addition to mitochondria-targeted therapies as therapeutic components in these diseases." @default.
• W3121556847 created "2021-02-01" @default.
• W3121556847 creator A5050503771 @default.
• W3121556847 creator A5080567939 @default.
• W3121556847 date "2021-01-27" @default.
• W3121556847 modified "2023-09-25" @default.
• W3121556847 title "Molecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria" @default.
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