What is Glycogen Storage Disease?

Glycogen storage disease is a rare genetic metabolic condition. There are approximately 11 different forms of this disease. Liberty is affected with Type 1a or also refered to as Von Gierkes Disease.

Glycogen Storage Disease Type 1A (GSD 1a) is caused by the body's inability to create glucose-6-phosphatase in the liver, kidney, & other organs. This enzyme is essential in the body's ability to break down glycogen. Glycogen is created in the body from excess glucose after we eat. This inability to break down glycogen results in the body storing this excess glycogen in the liver. The early symptoms of GSD 1a include low blood sugar, enlarged liver, failure to thrive, developmental delay, elevated lactate and uric acid levels in the blood & urine, and seizures mostly due hypoglycemia.

Von Gierkes Disease affects approximately 1 in 100,000 live births in the US & Europe. Diagnosis typically occurs within the first 3 to 4 months of life. In Liberty's case she was not diagnosed until she was 11 months old. This is rare with those suffering with this disease since many will suffer from seizures, impaired breathing, hypoglycemia (low blood sugar). This late diagnosis has resulted in the build up of fats & sugar in Liberty's liver creating her distended liver but fortunately did not result in her death during her infancy. Many infants without diagnosis die due to the complications of glycogen storage disease. Diagnosis of this disease is confirmed via liver biopsy & DNA testing.

There is no cure for GSD 1a and liver transplant is a last resort. Typically GSD is managed by diet. As you can imagine, the diet of a person with GSD is very restrictive. View the comparison of Liberty's daily intake to that a healthy 8 year old. GSD patients have to eat frequently through out the day to maintain glucose levels. Her liver is four times the size of what it should be due to glycogen & fatty deposits. Her liver is fragile & she is at high risk of stroke or heart attack. The decision to pursue a liver transplant for Liberty was a difficult decision. The liver transplant will in essence cure Liberty of GSD.