MEDICAL CODING TRAINING
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CENTRE FOR MEDICARE AND MEDICAID SERVICES
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VON GIERKE DISEASE
Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. Von Gierke disease is also called Type I glycogen storage disease (GSD I). Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. Von Gierke disease is also called Type I glycogen storage disease (GSD I).Glucose-6-phosphatase deficiency (G6PD, MIM #232200), also known as von Gierke disease, is a glycogen storage disease (GSD). It was the first GSD to have the responsible enzyme defect identified and therefore is designated GSD I (table 1). Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells.
Clinical Information
- An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
- An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys.
- Autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production; accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly; increased concentrations of lactic acid and hyperlipidemia appear in the plasma; clinical gout often appears in early childhood.
Glycogen storage disease treatment will depend on the type of disease and the symptoms. The following general treatment guidelines apply to people who have glycogen storage diseases that affect the liver, or types I, III, IV, and VI. Your child's doctor will develop a treatment regimen based on your child's specific symptoms.
The goal of treatment is to maintain normal blood glucose levels. This may be done with:
- A nasogastric infusion of glucose in infants and children under age two
- Dietary changes, including:
- In children over age two, frequent small carbohydrate feedings are given throughout the day. This may include uncooked cornstarch. (Uncooked cornstarch provides a steady slow-release form of glucose.)
- Elimination of foods that are high in fructose or lactose (type I only)
- Allopurinol (Aloprim, Zyloprim) may be prescribed to reduce uric acid levels in the blood. This is done to prevent gout and kidney stones.
This next group of glycogen storage disease treatment guidelines applies to people who have glycogen storage diseases that affect the muscles, or types V and VII. Your child's doctor will develop a treatment regimen based on your child's specific symptoms.
The goal of treatment is to avoid muscle fatigue and/or cramps induced by exercise. This is done by:
- Regulating or limiting strenuous exercise to avoid fatigue symptoms
- Improving exercise tolerance by oral intake of glucose or fructose (fructose must be avoided in people with type I), or an injection of glucagon
- Eating a high protein diet
There is no way to prevent glycogen storage diseases. However, early treatment can help control the disease once a person has it. If you have a glycogen storage disease or a family history of the disorder, you can talk to a genetic counselor when deciding to have children.
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