Glycogen storage disease (GSD) is a disorder caused by abnormal carbohydrate metabolism and is inherited in an autosomal recessive manner. It is characterized by the accumulation of large amounts of glycogen in various tissues. Glycogen accumulation is commonly observed in the liver, heart, kidneys, and muscles, but it can also occur in other organs such as the pancreas, adrenal glands, gastrointestinal tract, and brain. Glycogen serves as the primary storage form of glucose in the body and is composed of numerous glucose molecules. The synthesis and breakdown of glycogen require the participation of multiple enzymes. A deficiency in any of these enzymes can lead to impaired glycogen breakdown, resulting in its pathological accumulation in the body.

bubble_chart Diagnosis

(1) Clinical Manifestations Depending on the enzyme deficiency and the primarily affected organ, it can be divided into 12 types. The common clinical types are as follows.
1. Hepatic Type Liver enlargement is present at birth, with the liver being large and firm but without jaundice, and the spleen is not enlarged. Hypoglycemia often occurs, manifesting as vomiting, lethargy, and convulsions. In severe cases, dehydration and acidosis may develop during the neonatal period, and the kidneys may also enlarge. With age, growth retardation may become apparent, leading to a dwarfism state. Obesity is common, intelligence is normal, and lower limb muscle weakness is often observed.
2. Cardiac Type Symptoms typically begin in the neonatal period, including vomiting, anorexia, growth retardation, and muscle weakness. Later, symptoms of cardiac insufficiency may appear, such as dyspnea, cyanosis, dysphoria, cough, and edema. The heart becomes hypertrophic and enlarged, taking on a spherical shape, with or without murmurs. The liver and spleen are not enlarged.

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1. Hepatic Type
   (1) Fasting blood glucose in the morning is low, and hypoglycemia may occur. Glycogen levels are elevated.
   (2) Glucose tolerance test: The peak may not be very high, but the decline is slow.
   (3) Blood lactate levels are elevated, especially after oral galactose or glucagon administration.
   (4) Blood lipids are elevated, including serum triglycerides, cholesterol, phospholipids, as well as uric acid and pyruvate.
   (5) Urine specific gravity is increased, and urine ketones may be positive.
   (6) X-ray examination may reveal osteoporosis and kidney enlargement.
   (7) CT scans in some children with a longer disease course may show single or multiple adenomas in the liver.
2. Cardiac Type
   (1) Fasting blood glucose, glucose tolerance test, glucagon test, and urine ketones are all normal.
   (2) X-ray examination shows an enlarged, spherical heart.
   (3) Electrocardiogram reveals widened QRS complexes, ST-segment depression, and inverted T waves.
3. Muscular Type Electromyography may show myopathic changes.

bubble_chart Treatment Measures

﹝Treatment﹞

（1）Pay attention to personal hygiene, strengthen constitution, and avoid pestilence.

（2）Adopt a low-fat, high-protein, and high-glucose diet, with frequent small meals during the day and continuous drip feeding of high-carbohydrate solutions via a nasogastric tube at night (8–10 mg/kg per minute for infants, 5–7 mg/kg for children) to maintain blood glucose levels at 4–5 mmol/L. This not only alleviates clinical symptoms but also ensures normal growth and development in affected children. In recent years, oral administration of cornstarch at 1.75–2.5 g/kg every 4–6 hours has been used as an alternative, achieving similar therapeutic effects.

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（4）For cardiac-type cases with heart failure, use Digitalis.

（5）Control hypoglycemia with adrenal corticosteroids, glucagon, thyroid tablets, etc.