Type I glycogen storage disease
- Constant hunger and need to eat often
- Easy bruising and nosebleeds
- 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:
- Enlarged liver
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 liveror 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.