Glycogen storage disease (GSD) is a kind of autosomal recessive hereditary disease characterized by abnormal glycogen concentration or structure in tissues, which is caused by congenital defects of enzymes involved in glycogen metabolism, it is rare in clinical practice, and it is a rare congenital disorder of glycogen metabolism in infants. Among all types of GSD, GSD-I is the commonest and leads to excessive glycogen deposition in the liver and kidney resulting from glucose-6-phosphatase deficiency. Pathologically, the hepatocytes in its nucleus are especially enlarged also due to the high content of glycogen. Clinically the main complication of the disease in childhood is hypoglycemia, while in adults it is liver tumor and renal failure, with poor prognosis. CT/MRI examination is the main method of screening and differential diagnosis. The imaging examination lacks specificity; the main manifestations are complications such as hepatomegaly, liver tumor, etc.; and determination of glycogen quantification and glucose-6-phosphatase activity in liver tissue is the basis of definite diagnosis.