Glycogen-storage disease type 1: medical and social alertness

Abstract

Orphan hereditary pathologies are an urgent medical problem. Metabolic diseases have a special place among them. Currently they include about 500 nosological forms, in particular glycogen diseases. Type 1b glycogen disease (GB1b) occupies a special place. In addition to metabolic disorders, patients with this disease have severe neutropenia, which leads to frequent recurrent infectious diseases, such as stomatitis, periodontitis, furunculosis, otitis, colitis, gingivitis. In addition, recent studies showed the presence of lymphocytic dysregulation in patients with GB1b which is associated with T-regulatory lymphocytes dysfunction. It leads to an increased risk of developing autoimmune diseases, such as autoimmune thyroiditis, myasthenia gravis, Crohns disease, ANA-associated vasculitis. In addition, there is evidence about the association of GB1b and oncological pathologies, such as giant bone cell tumor, acute myeloid leukemia. According to such a wide variety of clinical manifestations, knowledge of the pathogenesis and possible non-metabolic manifestations is necessary for proper diagnostics and therapy.