6. INTERNATIONAL CONGRESS ON CONTEMPORARY SCIENTIFIC RESEARCH
THE SCHOLARLY DISCOURSE ON THE MAIN PATHWAYS UNDERLYING GLYCOGEN ACCUMULATION ILLNESSES, VARIOUS CLINICAL FACETS AND THE IN-MANAGING DRUG TREATMENT STRATEGIC ISSUES
Yazarlar:
Margarita BEGLARYAN
Luiza GABUNIA
Nodar SULASHVILI
Nana GORGASLIDZE
Magda DAVITASHVILI
Nato ALAVIDZE
Nino ABULADZE
Marina GIORGOBIANI
Ketevani GABUNIA
Marika SULASHVILIc
Aim of the research was to study the pathways underlying glycogen accumulation diseases, various clinical facets and the in-managing drug treatment strategic issues. Glycogen accumulation diseases, also known as glycogen storage diseases (GSDs), represent a group of inherited metabolic disorders characterized by defects in the processing, synthesis, or breakdown of glycogen. Glycogen is the primary storage form of glucose in the human body, and its regulation is essential for maintaining normal energy levels in tissues, particularly in the liver and muscles. Disruptions in these processes can result in an abnormal accumulation or depletion of glycogen, leading to a range of clinical manifestations that vary depending on the type of GSD and the tissues involved. Glycogen storage diseases (GSDs) are inherited congenital disorders of carbohydrate metabolism. Disorders of carbohydrate metabolism leading to abnormal accumulation of glycogen are classified as GSD. Their numbering is classified in order of recognition and identification of the enzymatic defect causing the disease. Clinical onset may vary from neonatal period to adulthood. Depending on the specific type, GSD may result from an inability to convert glycogen into energy and/or toxic glycogen accumulation; however, they all result in impaired glycogen utilization or storage. Glycogen storage diseases encompass a diverse group of metabolic disorders with genetic and biochemical underpinnings that lead to significant clinical challenges. Pharmacotherapy management in these disorders remains complicated due to the unique needs of each GSD type and the limitations of current treatment options. Ongoing research in gene therapy, enzyme replacement therapies, and other innovative approaches offers hope for more effective and personalized treatments in the future. The strategic management of drug treatment for GSDs is an evolving field that requires collaboration between clinicians, researchers, and the pharmaceutical industry to address the current unmet needs and improve patient outcomes. The article explores the genetic and biochemical underpinnings of GSDs, their clinical manifestations, and the challenges in pharmacotherapy management.
