Glycogen Storage Disease
Glycogen storage disease is a genetically inherited disease caused by an absence or
deficiency of one of the enzymes responsible for making or breaking down glycogen in
the body. This may affect the liver, muscles, heart, kidneys, and/or the blood cells. Many
different forms of glycogen storage disease exist.
Signs and symptoms of glycogen storage disease
Type I glycogen storage disease
This is the most common form of glycogen storage disease.
 Von Gierke disease often presents with:
– Sweating
– Irritability
– Mouth ulcers
– Infection
– Muscle weakness
– Hypoglycemia
– Enlarged liver
– Stunted growth
 Patients with type Ib can suffer from:
– Platelet dysfunction
– Inflammatory bowel disease
– Hyperlipidemia
– Renal insufficiency
– Gout
– Severe neutropenia
 Hypoglycemic complications, sometimes severe or lethal, can occur
Type II glycogen storage disease (Pompe’s disease)
The following are signs and symptoms of type II glycogen storage disease:
 Usually causes muscle weakness and respiratory issues (patients often need a
ventilator)
 Heart failure may result
 Scoliosis is common
 An enlarged tongue is common
 Weak throat muscles are common
Type III glycogen storage disease (Cori disease)
The following are signs and symptoms of type III glycogen storage disease:
 Swollen stomach from an enlarged liver
 Low fasting blood sugars
 Growth delay
 Muscle weakness
Type IV glycogen storage disease (Anderson’s disease)
The following occur with type IV glycogen storage disease:
 Most children die before 2 years of age from:
– Cirrhosis of the liver
– Cardiac failure
Type V glycogen storage disease (McArdle’s disease)
 Causes:
– Muscle pain with normal activity
– Muscle weakness
– Fatigue
Type VI glycogen storage disease (Hers’ Disease)
The following are signs and symptoms of type VI glycogen storage disease:
 A very mild form causes liver enlargement in childhood
 Decreased alanine levels and ketosis can occur
Type VII glycogen storage disease (Tarui disease)
The following are signs and symptoms of type VII glycogen storage disease:
 Muscle pain and weakness
 Kidney damage possible with strenuous activity
Nutrition therapy for glycogen storage disease
Type I glycogen storage disease
 Limit foods containing sucrose, fructose, lactose, or galactose
 Recommend frequent, high-starch feedings
 Night tube feedings often are necessary to prevent hypoglycemia
 Watch energy intake to prevent obesity and/or hypertriacylglycerolemia
 10% to 15% of total calories should come from protein
 25% to 35% of total calories should come from fat (less if obesity becomes an issue)
 Recommend that patients consume complex carbohydrates and avoid refined
carbohydrates
 Children older than 2 to 3 years of age should receive 1.25 to 2.5 grams/kilogram body
weight of raw cornstarch between meals to prevent hypoglycemia (mix in water or soy
formula/milk)
 Increase amount of carbohydrate by 10% to 15% and decrease fat by equal amount
during times of hypoglycemia
 Iron supplementation often is necessary
 Restrict the following foods for people with glycogen storage disease:
– All fruits except avocados, lemons, rhubarb, gooseberries, loganberries, blackberries,
cranberries, currants, pomegranates, or limes
– Beer
– Brandy
– Carob powder
– Chile sauces
– Fructose
– Fruit juice
– High-fructose corn syrup
– Honey
– Jams, jellies, and preserves
– Ketchup
– Liquor
– Maple syrup
– Milk
– Milk products
– Molasses
– Rum
– Sherry
– Sorbitol
– Sugar
– Vermouth
– Vodka
Type II glycogen storage disease
 People with type II glycogen storage disease often have trouble with the mechanics of
eating and may require tube feeding
 Sometimes a high-protein, low-carbohydrate diet is recommended
 Sometimes alanine supplementation is recommended
Type III glycogen storage disease
 Some research shows that cornstarch therapy also is effective in Type III glycogen
storage disease
 Sometimes a high-protein, low-carbohydrate diet is recommended (generally 45%
carbohydrate, 25% protein, and 30% fat)
 Recommend low-fat milk with whey protein powder
 Discourage sweets
Type V glycogen storage disease
 Sometimes a diet that is moderately high in protein is helpful
 Some patients benefit from B6 supplements
Types VI and VII glycogen storage disease
 Sometimes a high-protein, low-carbohydrate diet is recommended (generally 45%
carbohydrate, 25% protein, and 30% fat)
 Recommend low-fat milk with whey protein powder
 Discourage sweets
References and recommended resources
Anderson WE. Type IV glycogen storage disease. Medscape Reference Web site.
http://www.emedicine.com/med/topic910.htm. Accessed April 16, 2013.
PompeConnections: Common Health Concerns. Baarn, Netherlands: International Pompe
Association; 2005. http://www.worldpompe.org/pompe-disease/publications/category/2english. Accessed April 16, 2013.
PompeConnections: Nutrition and Dietary Therapy. Baarn, Netherlands: International
Pompe Association; 2005. http://www.worldpompe.org/pompedisease/publications/category/2-english. Accessed April 16, 2013.
Roth KR. Genetics of glycogen-storage disease type I. Medscape Reference Web site.
http://www.emedicine.com/PED/topic2416.htm. Accessed April 16, 2013.
Review Date 4/13
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