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Type 1 Glycogen Storage Disease

Type 1 glycogen storage disease is an inherited disorder that affects the way the body breaks down sugars.

your quick guide to this page

what is type 1 glycogen storage disease?
Learn what defines type 1 glycogen storage disease and what its general consequences are.
fast facts
Get a quick overview of type 1 glycogen storage disease through statistics and bite-sized facts.
symptoms
Learn about the symptoms of type 1 glycogen storage disease, how to recognize them, and what to do if you experience them.
lifestyle impacts
Find out how type 1 glycogen storage disease impacts your lifestyle.
what can I do?
Discover management and treatment strategies for type 1 glycogen storage disease.
additional resources
Find useful links, education, articles, recipes and more that can help with type 1 glycogen storage disease.

what is type 1 glycogen storage disease?

Type 1 Glycogen Storage Disease (GSD I), also known as von Gierke disease, is a rare inherited metabolic disorder that affects the liver’s ability to process and store glycogen. In GSD I, the liver cannot break down glycogen into glucose, leading to an accumulation of glycogen in liver cells causing them to swell. The liver is still able to perform many of its essential functions normally and this condition is not associated with liver failure.

fast facts

  • GSD I is the most common form of  glycogen storage disease accounting for approximately 25% of all GSD cases.
  • GSD is a rare disorder affecting approximately 1 in 100, 000 births globally.
  • Children are typically diagnosed with GSD I between 4 and 10 months of age.

symptoms

Common symptoms for an individual experiencing type 1 glycogen storage disease include:

  • An inflamed liver
  • Muscle pain
  • Low blood sugar
  • Heat intolerance
  • Bruising easily
  • Fatigue
  • Growth failure

lifestyle impacts

Most patients with type 1 glycogen storage disease live a normal life. GSD I impacts the body’s ability to convert sugar into energy, so patients with this condition often experience fatigue or weakness which may impact their daily activities. Individuals with GSD I are typically advised to follow a strict diet of consistent carbohydrates to maintain blood sugar levels. Consistent blood glucose monitoring is essential for individuals with this condition to help ensure blood glucose levels are optimal.

what can I do?

prevention

Glycogen storage disease is an inherited disorder and therefore cannot be prevented.

diagnosis

Diagnosis for GSD I typically occurs in the first year of life. Common diagnostic testing for GSD I include:

  • Blood tests to assess liver functioning.
  • Imaging tests (X-ray, ultrasound, CT scan) to measure the size of the liver and kidneys.
  • Liver biopsy to confirm diagnosis.

treatment

Treatment for type 1 glycogen storage disorder typically focus on promoting the development of the child and improving metabolism functioning. Common treatments for individuals with GSD I include:

  • Dietary Adjustments: consuming many smaller meals containing carbohydrates throughout the day to maintain blood sugar levels.
  • Cornstarch Consumption: consuming cornstarch regularly to help slow down the release of glucose into the bloodstream.
  • Feeding Tube: a feeding tube may be required to provide the body with continuous glucose and cornstarch through a naso-gastric tube.

additional resources

Here are a few questions to ask your doctor or medical team:

  • What type of glycogen storage disease do I have?
  • Is there a specific diet I should follow to manage my condition?
  • What is the status of my liver?
  • Are there any medications or treatments available to improve my metabolism function?