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Symptoms:
Constant hunger and need to eat often Easy bruising and nosebleeds Fatigue Irritability Puffy cheeks, thin chest and limbs, and swollen belly
Delayed puberty Enlarged liver Gout Inflammatory bowel disease Liver tumors Severe low blood sugar (hypoglycemia) Stunted growth or failure to grow
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.
Treatment:
The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth. Overnight, a feeding tube is placed through the nose into the stomach to provide sugars or uncooked cornstarch. The tube can be put in at bedtime and taken out each morning. A medication called allopurinol can lower blood uric acid and decrease the risk for gout. Other medications may include those for kidney disease, high lipids, and to increase the cells that fight infection. Persons with von Gierke disease cannot properly break down fruit or milk sugar. It is best to avoid these products.
Support Groups:
Association for Glycogen Storage Disease -- www.agsdus.org
Expectations (prognosis):
Since treatments have been developed, growth, puberty, and quality of life have improved for people with von Gierke disease. Those who are identified and carefully treated at a young age can live into adulthood. Early treatment also decreases the rate of severe problems such as:
Complications:
Frequent infection
Gout Kidney failure Liver tumors Osteoporosis Seizures, lethargy, confusion due to low blood sugar Short height Underdeveloped secondary sexual characteristics (breasts, pubic hair) Ulcers of the mouth or bowel
Prevention:
There is no simple way to prevent glycogen storage disease. Couples who wish to have a baby may seek genetic counseling and testing to determine their risk for passing on von Gierke disease.
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.
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