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Alternative names
Type I glycogen storage diseaseDefinition Return to top
Von Gierke disease is a group of inherited metabolic disorders which involve increased glycogen storage. Since glycogen is needed to fuel muscles, problems with its metabolism can affect the whole body.
Some problems include slow growth, enlarged liver, gout, kidney failure, and chronic low blood sugar. In the past, von Gierke disease was associated with stunted growth, delayed or absent puberty, and early death.
With the development of treatments, growth, puberty, and quality of life have markedly improved.Causes, incidence, and risk factors Return to top
All type I glycogen storage diseases are inherited in an autosomal recessive manner. Autosomal chromosomes are the non-sex chromosomes. If both parents are carriers of the mutated gene, each of their children has a 25% chance of inheriting the disease.
All the subtypes of this disease share a common feature -- lack of proteins responsible for transporting or breaking down the components of glycogen. As a result, abnormal amounts of glycogen accumulate in various tissues, causing a wide range of symptoms.
Symptoms Return to top
Signs and tests Return to top
Treatment Return to top
Treatment for this disease concentrates on avoiding low blood sugar. Frequent feedings are needed during the day, especially foods that contain carbohydrates (starches). Neither fruit nor milk sugar can be adequately broken down in this disease, and are best avoided.
Overnight fasting is avoided by continuous feedings (through a tube that goes through the nose into the stomach) of sugars or uncooked cornstarch. The tube can be put in at bedtime and taken out each morning. A medication called allopurinol, which can lower blood uric acid and decrease the risk for gout, is often used.
Support Groups Return to top
Association for Glycogen Storage Disease
P.O. Box 896
Durant, IA 52747
563-785-6038
www.agsdus.org
Expectations (prognosis) Return to top
Since development of the treatments listed above, patients have improved growth, development and health. 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 liver tumors, kidney failure, gout and life-threatening low blood sugar that can occur without treatment.
Complications Return to top
Calling your health care provider Return to top
Call your health care provider if there is a family history of glycogen storage disease or early infant death due to low blood sugar. Genetic counseling is recommended if there is a family history of glycogen storage disease.Prevention Return to top
There is no simple way to prevent glycogen storage disease. Prospective parents may seek genetic counseling and testing to determine their risk for passing on von Gierke disease. Treatment is effective at preventing many of the complications. Update Date: 7/25/2003 Updated by: Douglas R. Stewart, M. D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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Page last updated: 28 October 2004 |