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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.

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