GLYCOGENOSIS IN CHILDREN: MODERN ASPECTS (PART I)

Abstract

Glycogenosis is a hereditary carbohydrate metabolism disease, which is caused by mutations in various genes, coding enzymes needed for glycogen synthesis and decay. Due to enzymes defects redundant glycogen deposits in cells of different tissues, mainly in liver and muscles. Despite the high specificity of glycogenosis symptoms, this condition is still underdiagnosed nowadays because of low awareness of physicians. The article includes modern aspects on etiology, classification, clinical presentation, laboratory and instrumental symptoms and histopathology signs of glycogenosis in children and also the data about treatment and management of such patients.

Keywords

• glycogenosis, pathogenesis, clinical presentation, diagnostics, treatment, children