Glycogen Storage Disease Type 1 (GSD I)
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Overview
Glycogen Storage Disease Type 1 (GSD I), also known as von Gierke’s disease, is the most common form of glycogen storage disease, accounting for about 25% of all cases. It is an inherited disorder that affects the body’s metabolism—the process of breaking down food into energy.
Normally, after eating, excess glucose is stored in the liver as glycogen to help maintain stable blood sugar levels. In GSD I, the enzyme responsible for releasing glucose from glycogen is missing. As a result, individuals cannot maintain normal blood glucose levels and develop hypoglycemia (low blood sugar) within hours after eating. This often causes symptoms like chronic hunger, fatigue, and irritability, especially in infants.
Because glucose cannot be released properly, glycogen builds up in the liver and kidneys, causing these organs to enlarge over time. Despite this, liver failure is usually not seen in GSD I.
What Are the Symptoms of GSD I?
Children with GSD I often show symptoms early in life, including:
- Growth failure
- Chronic hunger
- Fatigue and irritability
- Enlarged liver and swollen abdomen
- Blood tests may reveal low blood sugar, elevated lipids, and high uric acid levels
The most common cause, as it significantly reduces the liver’s ability to function.
Sudden loss of liver function due to factors like viral hepatitis, drug overdose, or toxins.
High blood pressure in the liver can lead to the diversion of blood around the liver, allowing toxins to bypass detoxification.
Bleeding in the intestines can increase the amount of toxins that the liver must process.
Infections, especially bacterial infections in people with liver disease, can trigger or worsen HE.
Imbalances in sodium, potassium, and other electrolytes may also contribute to HE development.
What Causes GSD I?
GSD I is caused by inherited mutations that lead to a deficiency of the enzyme needed to convert stored glycogen back into glucose. Without this enzyme, blood sugar cannot be maintained during fasting periods.
How is GSD I Diagnosed?
Most children are diagnosed between 4 and 10 months of age. Diagnosis may include:
- Blood tests to check glucose and metabolic markers
- Imaging tests like ultrasound to assess liver and kidney size
- Genetic testing to identify mutations
- In some cases, liver biopsy to evaluate glycogen buildup
How is GSD I Treated?
Treatment aims to stabilize blood sugar levels and support normal growth and development. Common strategies include:
- Frequent, small meals to prevent hypoglycemia
- Use of uncooked cornstarch, which digests slowly and provides a steady glucose supply between meals
- Soy-based formulas or soy milk as alternatives
- Restriction of certain sugars, although the degree of restriction varies
- In some cases, continuous overnight feeding via a nasogastric tube to maintain glucose levels during sleep
Who is at Risk for GSD I?
GSD I is an inherited genetic disorder. Children born to parents who carry the mutated gene are at risk. Symptoms typically appear very early in childhood.
How Can Liver Transplantation Portal Help You?
At Liver Transplantation Portal, we connect families affected by GSD I with experienced pediatric hepatologists and metabolic specialists. We provide guidance through diagnosis, treatment options, and, if necessary, liver transplantation for advanced cases to ensure the best care for your child.
Why Choose Liver Transplantation Portal?
We are committed to supporting families managing rare metabolic liver diseases like GSD I. With access to leading experts and comprehensive resources, Liver Transplantation Portal helps you navigate complex care pathways and access life-saving treatments.
Contact us today to learn more about Glycogen Storage Disease Type 1 and how we can assist your family.