Von Gierke disease

Definition:

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.

Symptoms:

Severe low blood sugar (hypoglycemia)
In childhood there may be 'doll-like' features including puffy cheeks, a thin chest/limbs and protuberant belly
Intolerance of fasting, need for frequent feeding
Stunted growth
Delayed/underdeveloped puberty
Enlarged liver
Gout (a painful inflammation of joints)
Easy bruising, nose bleeds
In one type of the disease, white blood cells don't work right and there is increased risk for infection and ulcers of the mouth or bowels

Signs and tests:

Enlarged liver with accumulated glycogen and fat on exam
Liver tumors (adenomas)
Low blood sugar (hypoglycemia)
High blood uric acid (a risk factor for gout)
High blood lactic acid
Administration of adrenalin or glucagon fails to increase blood sugar and does increase blood lactic acid
High blood fats, especially triglycerides
Inability to tolerate fasting
Improvement in response to frequent feedings
Kidney stones or failure
Biopsy of liver or kidney shows accumulated glycogen
Enzyme tests on liver biopsy
Genetic tests for mutations

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.

Complications:

Seizures, lethargy, confusion due to low blood sugar
Gout
Kidney failure
Liver tumors
Short adult stature
Underdeveloped secondary sexual characteristics
Osteoporosis
Ulcers of the mouth or bowel
Frequent infection

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.

Review Date: 9/9/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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