Glycogen storage disease （GSD） is a group of monogenic hereditary disorders characterized by abnormalities in glycogen synthesis and catabolism， most of which are inherited in an autosomal recessive pattern. GSD can be classified into more than ten types based on enzyme defects or transporters， and according to the affected system， it can be mainly classified into two categories of liver GSD and muscle GSD. The typical manifestations of liver GSD include hepatomegaly with onset in infancy， growth retardation， fasting hypoglycemia， hyperlipidemia， hyperuricemia， and hyperlacticemia， while the manifestations of muscle GSD include exercise intolerance， exercise-related myalgia， myospasm， and progressive muscle weakness. The primary， secondary， and tertiary prevention strategies target different populations and genotypes and perform genetic screening and prevention at different time points， which can effectively reduce the incidence rate of GSD and increase the early treatment rate of GSD. For this reason， with reference to related guidelines， expert consensus， and the latest research evidence in China and globally， the expert group of the guidelines conducted repeated discussions and formulated the guidelines for the primary， secondary， and tertiary prevention of GSD in the light of China’s national conditions， in order to provide a standardized process for the primary， secondary， and tertiary prevention of GSD and further promote the standardized prevention and control of GSD. ［Journal of International Neurology and Neurosurgery, 2024, 51(5): 14-22］