Glycogen storage disease is a congenital disorder of carbohydrate metabolism caused by enzyme deficiencies, mostly inherited in an autosomal recessive pattern, with disease causes varying by race.

bubble_chart Etiology

Excessive sugar metabolism abdominal mass

bubble_chart Clinical Manifestations

Clinical symptoms typically appear within the first year of life, manifesting as hepatomegaly, recurrent hypoglycemia, and potential intellectual disability due to hypoglycemia. Affected children often exhibit short stature, a round face, a distended abdomen, and fat accumulation in the cheeks and buttocks. Infections can trigger acidosis, ketonuria, hyperlipidemia, lactic acidosis, hematuria, and increased acid levels.

bubble_chart Auxiliary Examination

Laboratory tests reveal low fasting blood glucose levels, and the glucagon test and epinephrine test aid in diagnosis. The latter involves subcutaneous injection of 1/1000 epinephrine at a dose of 0.01 mg/kg. In normal individuals, blood glucose levels increase by 1.67–2.50 mmol/L (30–45 mg/dl) 1 hour after injection, whereas patients show minimal elevation in blood glucose. If necessary, a liver biopsy may be performed, showing increased glycogen in hepatocytes and absence of glucose-6-phosphatase activity.

bubble_chart Treatment Measures

Therapeutic measures include a high-protein, high-glucose diet with frequent feedings to maintain normal blood sugar levels, especially with an additional midnight meal to prevent hypoglycemia the next morning. Other treatments involve preventing infections and correcting acidosis (using NaHCO₃, while avoiding sodium lactate). If blood lipids continue to rise after correcting hypoglycemia, clofibrate at 50mg/(kg·d) may be used. For hyperuricemia unmanageable by dietary therapy, allopurinol at 5–10mg/(kg·d) can be administered. Hormone therapy is beneficial for maintaining normal blood sugar levels and improving appetite. Glucagon, various steroid hormones, and thyroid hormones may provide temporary symptomatic relief. Surgical methods, such as portacaval anastomosis, allow glucose absorbed from the intestines to bypass the liver and enter the bloodstream directly, potentially leading to liver shrinkage and accelerated growth post-surgery, though long-term effects remain uncertain. Liver transplantation has also been reported, but its efficacy is unclear and difficult to generalize. Other approaches, such as enzyme replacement therapy, have shown limited effectiveness.