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Von Gierke disease

• Overview
• Symptoms
• Treatment
• Prevention

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:

• Biopsy of liver or kidney
• Blood sugar test
• Genetic testing
• Lactic acid blood test
• Triglyceride level
• Uric acid blood test

Testing reveals low blood sugar and high levels of lipids and uric acid.

References:

Behrman RE. Nelson Textbook of Pediatrics . 17th ed. Philadelphia, Pa: WB Saunders; 2004.

• Review Date: 5/2/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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