Von Gierke's Disease: causes, symptoms, diagnosis and treatment

Von Gierke's Disease is also medically known as Type 1 Glycogen Storage Disease. It is a disease that impairs the body from properly breaking down glycogen to glucose for energy. The disease will cause the body to accumulate abnormal levels of glycogen within certain tissues.

Von Gierke's Disease is not a common disease, and it occurs in 1 out of 50,000 infants. Because of the symptoms of the disease, affected newborns are at risk of developing neonatal hypoglycemia and its associated complications. There two major types of Von Gierke's Disease - the type 1a and the type 1b. The both subtypes are equal in frequency for both sexes.

Causes

The storage of glycogen is at certain muscles and liver. When an individual does not eat, the stored glycogen is then broken down as a source of energy. For the type 1a, there is a deficiency of the enzyme glucose-6-phosphatase in the intestines, kidney and liver. For the subtype 1b, the transporter of enzyme glucose-6-phosphatase is defective.

Von Gierke's Disease is largely inherited from an autosomal recessive pattern. This means that in order for the disease to develop, both parents must carry the defective gene. A lot of people carry this defective gene, but unless there are two copies that are passed on to the child, no serious ailments can occur.

Symptoms

The symptoms of Von Gierke's Disease may start to manifest as early as the child is born. However, there are instances that symptoms develop afterwards.

• Coma
• Apnea
• Seizures
• Cyanosis
• Irritability
• Tremors

During the neonatal period, Von Gierke's Disease may manifest the symptom of lactic acidosis. Lactic acidosis is a condition in which there is an accumulation of lactic acid within the blood stream. This may cause other problems such as convulsions or seizures.

A child with Von Gierke's Disease will manifests an abnormal liver enlargement by 3 to 4 months of age. Physical appearance of a child with Von Gierke's Disease usually appears as protuberant abdomen, short stature, relatively thin extremities and fat cheeks.

A short period of fasting can immediately cause lactic acidosis and low blood sugar.

Nose bleeding and easy bruising are common due to abnormal platelets. For patients with type 1b, oral ulcers and bacterial ulcers are common. It is also common to see patients to develop intermittent diarrhea that only worsens as the he or she ages.

Diagnosis

Children having Von Gierke's Disease are often diagnosed before they reach the age of one. A detailed history and proper physical examination are key for diagnosing the disease.

There are several tests that may confirm the disease such as bone density measurement, cholesterol levels, blood coagulation profile, liver function test, urine albumin, serum electrolytes, complete blood count, kidney function test, blood pH and blood glucose.

The use of ultrasound imaging will also reveal an enlargement of the liver. The physician may also assess kidney function as a confirmatory test for the disease. In females, an ultrasound imaging may also reveal polycystic ovaries.

The definitive test for diagnosing Von Gierke's Disease is through an assay of glucose-6-phosphatase enzyme and liver biopsy. A recent development produced a non-invasive diagnosis of Von Gierke's Disease, and it is through gene testing.

Complications

Von Gierke's Disease can cause a wide range of complications affecting multiple organs. However, advances in current treatment have improved the prognosis of patients with Von Gierke's Disease.

Long-term complications of the disease are as follows:

• Gout – this is often seen during puberty because of the persistent increased levels of uric acid caused by the disease. This will also lead to painful inflammation of the joints.
• Polycystic Ovaries Syndrome – this if often found in female patients. It is often a result of an imbalance of the female sex hormones. Acne and hirsutism are often seen in patients with PCOS; however, these does not manifest in patients having PCOS that is caused by Von Gierke's Disease. Recent studies have shown that the disease does not interfere with the patient’s fertility.
• Other complications of the disease may include kidney stones and diseases, hypertension, liver cancer, bone fractures, heart disease, pancreatic disease, recurrent bacterial infection, severe brain damage, severe bleeding, severe anemia.

Prognosis

With proper treatment, a reasonable lifespan may be achieved by patients with Von Gierke's Disease. New advances in modalities and treatments allow patients to survive until adulthood, which was rare in until recent times. The mortality rate in young adults and adolescents are increased by liver cancer, high-blood pressure and kidney diseases.

Treatment

Effective treatment of Von Gierke's Disease may include restriction of certain activities and well-planned diet. Treatment also includes drugs that treat and prevent complications and symptoms associated with the disease.

Diet

The primary goal for patients having Von Gierke's Disease is to avoid low blood sugar. This means the patient's diet is the mainstay of Von Gierke's Disease treatment. The diet must be adjusted and monitored by a highly specialized nutritionist. Adequate protein and calories are a must for growth while avoiding excessive calories.

Nasogastric tubes are often used for overnight feeding. For patients older than 2 to 3 years old, early morning hours and bedtime are replaced by raw corn starch.

Activity

The treatment Von Gierke's Disease will require restriction to certain activities. However, the restrictions are largely based on the patient’s condition. Contact sports are highly avoided because of the increased risk of bleeding and infection.

Medications

For type 1a, there are not specific medications required. However, oral supplements are given. Most of the supplements are in the form of iron supplements to prevent complications caused by Anemia. Antibiotics are needed for recurring infections. For type 1b, weekly administration of granulocyte colony-stimulating factor is required. Dietary supplements typically include Vitamin D, calcium and multivitamins. For reducing elevated uric acid levels, allopurinol is administered. For high cholesterols levels, drugs that belong to categories of fibric acids and statins are given.

Surgical Care

After the initial liver biopsy, other surgical treatments are not necessary. However, skin infections must be treated immediately since it may cause the need for plastic surgery and surgical debridement if left untreated. In cases of hepatic adenomas, liver transplantation has been attempted in the past.