Glycogen Storage Disease Type 1 (GSD1)
What is glycogen storage disease type 1?
Glycogen storage disease type 1 (GSD1), also known as von Gierke disease, occurs when there is an accumulation of glycogen in the cells. This buildup can affect multiple organs throughout the body. One of every 100,000 people is diagnosed with this condition.
What are the symptoms of glycogen storage disease type 1?
Symptoms typically appear three or four months after birth, and they include issues with sleeping through the night, low appetite, low blood sugar that can lead to seizures, buildups of lactic acid, high levels of uric acid in the blood, and excess fat in the blood. Affected individuals may also experience enlarged kidneys and liver, along with diarrhea and deposits of cholesterol in the skin.
Symptoms progress as children age, and they may experience a delay in puberty. Other symptoms include:
- Pulmonary hypertension
- Kidney disease
- Adenomas can form in the liver
- Females may have polycystic ovaries
What causes glycogen storage disease type 1?
One of two genes will mutate to cause this disease: G6PC or SLC37A4. These mutations cause issues with the breakdown of glucose 6-phosphate, which then converts into glycogen. Both of the genes are inherited in an autosomal recessive pattern.
How is glycogen storage disease type 1 diagnosed?
Doctors use tests that measure levels of glucose, lactate, triglycerides, cholesterol, and uric acid to diagnose this condition. They will utilize genetic testing to confirm a diagnosis.
What are the treatments for glycogen storage disease type 1?
A special diet is used to manage glycogen levels, which consists of small servings of carbohydrates throughout the day and night. Vitamins may be used in treatment as well. Other symptoms, such as kidney disease and gout, will be treated as well.