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 a poor ability to withstand fasting due to low blood sugar. In the past, von Gierke disease was associated with stunted growth, delayed or absent pubertal development, and early death.
With the advent of treatment growth, puberty, and quality of life have markedly improved.
Alternative Names
Type I glycogen storage disease
Causes, incidence, and risk factors
All type I glycogen storage diseases are inherited in an autosomal recessive manner. Therefore, the risk factor is having 2 parents who are both carriers of the defective 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.
Treatment
Treatment for this disease concentrates on avoiding low blood sugar. This entails frequent feedings during the day, especially with 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
Association for Glycogen Storage Disease (202) 966-5557
Expectations (prognosis)
Since development of the treatments listed above, patients have improved growth, development and health. Those who are identified at a young age and carefully treated can live into adulthood and will have a decreased rate of the severe problems such as liver tumors, kidney failure, gout and life-threatening low blood sugar that can occur without treatment.
Calling your health care provider
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
There is no simple prevention for the occurrence of this disease. Two prospective parents could elect genetic counseling/testing to determine the risk for von Gierke disease. Treatment is effective at preventing many of the complications.