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Von Gierke disease

  • Alternative Names

    Type I glycogen storage disease

    • Constant hunger and need to eat often
    • Easy bruising and nosebleeds
    • Fatigue
    • Irritability
    • Puffy cheeks, thin chest and limbs, and swollen belly

    Signs and tests

    The health care provider will perform a physical exam.

    There may be signs of:

    • Delayed puberty
    • Enlarged liver
    • Gout
    • Inflammatory bowel disease
    • Liver tumors
    • Severe low blood sugar (hypoglycemia)
    • Stunted growth or failure to grow

    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 lactate, lipids, and uric acid.