Nutritional Strategies for Managing Inborn Errors of Metabolism: Focus on Macro-Nutrient-Related Genetic Disorders

Abstract

Inborn Errors of Metabolism (IEMs) are a family of heritable diseases, which are rare and caused by the inadequateness of the enzyme activity that interferes with proper metabolic pathways related to carbs, proteins and fats. Disruptions in metabolism in connection to these deficiencies are likely to trigger dangerous build ups of intermediates or scarcity in essential energy carriers, placing the condition in the face of acute health risk that requires intensive biomedical intervention. This systematic review performs a combined review of the nutritional control of a variety of four illustrative macronutrient associated IEMs, including: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCADD), and Galactosemia. It looks at earlier methods like the restriction of substrates and the addition of treatments and mentions newer interventions that involve the replenishment of co-factors, the use of genes, and the formulation of new medical foods. In addition, it covers the developments in digital technologies in dietary monitoring and precision nutrition, highlighting the importance of using them in improving adherence and clinical outcomes. The review does not stop at clinical effects but also covers the psychosocial, economic, and ethical aspects of nutritional care, including existing disparities that still exist in low-resource environments. Case studies are given where it can be noted that one should look at early diagnosis, multidisciplinary cooperation, and individual dietary interventions. These arguments together establish the primacy of nutritional therapy in IEM treatment and support a transition towards the dynamic patient-based models over the traditional stagnant methods based on metabolic information and technological advancements. This dynamic model underlines the necessity of shifting toward translational nutritional science, available medical-food commodities, and progressive healthcare policy in order to maximize the results achieved by the individuals with IEMs.