Finding Treatments for Genetic Metabolic Disease

AbstractGenetic metabolic diseases are comprised of a vast array of single-gene disorders that affect critical cellular biochemical pathways. Various approaches have been taken to treating individual metabolic diseases, each aimed at mitigating specific biochemical pathway deficiencies through targeting facets of cellular function. These approaches include targeting at the gene, enzyme, and biochemical levels via methodologies such as direct gene modification, enzyme replacement therapy, substrate reduction therapy, cofactor administration, dietary management, and organ transplantation. In this review, an overview of each of these approaches will be provided, and representative therapies in each category will be discussed.

Source: Current Pediatrics Reports - October 26, 2016 Category: Pediatrics Source Type: research