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Von Gierke disease - Symptom

Alternative Names

Type I glycogen storage disease

Symptoms:

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:

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.

References

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.

Autosomal recessive

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