von Gierke disease
Type I glycogen storage disease; von Gierke's diseaseVon 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).
Causes
Von Gierke disease occurs when the body lacks the protein (enzyme) that releases glucose from glycogen. This causes abnormal amounts of glycogen to build up in certain tissues. When glycogen is not broken down properly, it leads to low blood sugar.
Low blood sugar
Low blood sugar is a condition that occurs when the body's blood sugar (glucose) decreases and is too low. Blood sugar below 70 mg/dL (3. 9 mmol/L) i...
Read Article Now Book Mark ArticleVon Gierke disease is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25% (1 in 4) chance of developing the disease.
Symptoms
These are symptoms of von Gierke disease:
- Constant hunger and need to eat often
- Easy bruising and nosebleeds
- Fatigue
- Irritability
- Puffy cheeks, thin chest and limbs, and swollen belly
Exams and Tests
Your health care provider will perform a physical exam.
The exam may show signs of:
- Delayed puberty
- Enlarged liver
- Gout
-
Inflammatory bowel disease
Inflammatory bowel disease
Ulcerative colitis is a condition in which the lining of the large intestine (colon) and rectum become inflamed. It is a form of inflammatory bowel ...
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- Severe low blood sugar
- Stunted growth or failure to grow
Children with this condition are usually diagnosed before age 1 year.
Tests that may be done include:
-
Biopsy of liver or kidney
Biopsy of liver
A liver biopsy is a test that takes a sample of tissue from the liver for examination.
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Blood sugar test
Blood sugar test
A blood sugar test measures the amount of a sugar called glucose in a sample of your blood. Glucose is a major source of energy for most cells of the...
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-
Lactic acid blood test
Lactic acid blood test
Lactic acid is mainly produced in muscle cells and red blood cells. It forms when the body breaks down carbohydrates to use for energy when oxygen l...
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Triglyceride level
Triglyceride level
The triglyceride level is a blood test to measure the amount of triglycerides in your blood. Triglycerides are a type of fat. Your body makes some t...
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Uric acid blood test
Uric acid blood test
Uric acid is a chemical created when the body breaks down substances called purines. Purines are normally produced in the body and are also found in...
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If a person has this disease, test results will show low blood sugar and high levels of lactate (produced from lactic acid), blood fats (lipids), and uric acid.
Treatment
The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.
In some children, a feeding tube is placed through their nose into the stomach throughout the night to provide sugars or uncooked cornstarch. The tube can be taken out each morning. Alternatively, a gastrostomy tube (G-tube) can be placed to deliver food directly to the stomach overnight.
A medicine to lower uric acid in the blood and decrease the risk for gout may be prescribed. Your provider may also prescribe medicines to treat kidney disease, high lipids, and to increase the cells that fight infection.
People with von Gierke disease cannot properly break down fruit or milk sugar. It is best to avoid these products.
Support Groups
More information and support for people with von Gierke disease and their families can be found at:
Association for Glycogen Storage Disease -- www.agsdus.org
Outlook (Prognosis)
With treatment, growth, puberty, and quality of life have improved for people with von Gierke disease. Those who are identified and carefully treated at a young age can live into adulthood.
Early treatment also decreases the rate of severe problems such as:
-
Gout
Gout
Gout is a type of arthritis. It occurs when uric acid builds up in the blood and causes inflammation in the joints. Acute gout is a painful conditio...
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Kidney failure
Kidney failure
End-stage kidney disease (ESKD) is the last stage of long-term (chronic) kidney disease. This is when your kidneys can no longer support your body's...
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- Liver tumors
Possible Complications
These complications can occur:
- Frequent infection
- Gout
- Kidney failure
- Liver tumors
-
Osteoporosis (thinning bones)
Osteoporosis
Osteoporosis is a disease in which bones become fragile and more likely to break (fracture).
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Seizures, lethargy, confusion due to low blood sugar
Seizures
A seizure is the physical changes in behavior that occurs during an episode of abnormal electrical activity in the brain. The term "seizure" is often...
Read Article Now Book Mark ArticleLethargy
Fatigue is a feeling of weariness, tiredness, or lack of energy.
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- Underdeveloped secondary sexual characteristics (breasts, pubic hair)
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Ulcers of the mouth or bowel
Ulcers of the mouth
Mouth ulcers are sores or open lesions in the mouth.
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When to Contact a Medical Professional
Contact your provider if you have a family history of glycogen storage disease or early infant death due to low blood sugar.
Prevention
There is no simple way to prevent glycogen storage disease.
Couples who wish to have a baby may seek genetic counseling and testing to determine their risk for passing on von Gierke disease.
References
Bonnardeaux A, Bichet DG. Inherited disorders of the renal tubule. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Taal MW, Skorecki K, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 44.
Kishnani PS, Chen Y-T. Defects in metabolism of carbohydrates. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 105.
Litwack G. Glycogen and glycogenolysis. In: Litwack G, ed. Human Biochemistry. 2nd ed. Philadelphia, PA: Elsevier; 2022:chap 7.
Santos BL, Souza CF, Schuler-Faccini L, et al. Glycogen storage disease type 1: clinical and laboratory profile. J Pediatr (Rio J). 2014;90(6):572-579. PMID: 25019649 pubmed.ncbi.nlm.nih.gov/25019649/.
Review Date: 4/24/2023
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.