Von Gierke disease - Symptom
Alternative Names
Type I glycogen storage disease
Symptoms:
- Severe low blood sugar (hypoglycemia)
- Puffy cheeks, thin chest and limbs, and swollen belly
- Constant hunger and need for frequent feedings
- Stunted growth or growth failure
- Delayed or underdeveloped puberty
- Enlarged liver
- Fatigue
- Irritability
- Gout (a painful inflammation of joints)
- Easy bruising and nosebleeds
Signs and tests:
The health care provider will perform a physical exam. There may be signs of a swollen liver and liver tumors. Children with this condition are usually diagnosed before age 1.
Tests that may be done include:
Testing reveals low blood sugar and high levels of lipids and uric acid.
- Reviewed last on: 5/2/2007
- Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
References
Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders; 2004.
