Von Gierke disease - Symptom
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:
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 lactate, lipids, and uric acid.
- Reviewed last on: 5/16/2011
- Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Smit GPA, Rake JP, Akman HO, DiMauro S. The glycogen storage diseases and related disorders. In: Fernandes J, Saudubray JM, Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. New York, NY:Springer;2006:chap 6.
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