The important effects of incomplete metabolism on human health are
examined in this work, with particular attention to how it may play a role in the
etiology of long-term conditions like diabetes, obesity, and mitochondrial diseases.
Nutritional deficits, the buildup of hazardous metabolites, and a disturbance of
biochemical equilibrium are all consequences of metabolic pathway disruption. The
classic cases of phenylketonuria (PKU) and maple syrup urine disease (MSUD) are the
grave neurological and developmental effects of metabolic pathway disruption. G6PD
insufficiency is an example of how incomplete drug metabolism, which can be caused
by genetic polymorphisms, enzyme deficiencies, or hepatic/renal impairments, can lead
to metabolic toxicity and drug buildup. Deficiencies in vital vitamins (B12, D, A, K) and
minerals (calcium, iron) result in metabolic inefficiencies and clinical aftereffects, such
as anemia and neurotoxicity. Nutrient metabolism is also compromised. Lipid
intermediate buildup, oxidative stress, and systemic inflammation are all influenced by
lipid metabolic abnormalities, which are especially prevalent in non-alcoholic fatty
liver disease (NAFLD) and non-alcoholic steatohepatitis (NASH). By affecting ATP
synthesis and redox equilibrium, mitochondrial dysfunction aggravates metabolic
diseases further. Oxidative stress aggravates illnesses, such as myopathies and lactic
acidosis. Novel therapeutic approaches, such as enzyme replacement therapy (ERT),
CRISPR-Cas9 gene therapy, and nanotechnology-based methods, present intriguing
paths toward pharmacogenomics-driven enzyme regulation and metabolic function
restoration, as well as toward precision medicine.
Keywords: CRISPR-Cas9 gene editing therapy, Hepatic lipid peroxidation, Inborn errors of metabolism, Metabolic dysregulation, Micronutrient malabsorption, Mitochondrial bio-energetic failure, Phenylalanine hydroxylase deficiency, Toxic metabolite accumulation, Xenobiotic metabolism impairment.
