Glycogen storage disease (GSD) refers to a group of rare genetic conditions that affect how the body stores and breaks down glycogen. The most common type is type I, also called von Gierke disease.

GSD type I can cause low blood sugar and other symptoms, typically beginning when a person is a few months old. GSD can also affect newborns or begin in adulthood.

Read on to learn more about the symptoms of GSD and what causes the condition. This article also looks at how doctors diagnose the condition, treatment options, prevention, and more.

Signs and symptoms may depend on the type of GSD. However, they generally include:

Symptoms may beTrusted Source present from birth, or the onset may be later in childhood or adulthood. Type I is most likely to begin at around the age of 3 or 4 months.

View the table below for the types of GSD, the alternative name for each GSD type, and the parts of the body each type most commonly affects.

Type (alternative name)Parts of the body
Type 0 (Lewis disease)• liver
Type I (von Gierke disease)• intestines
• kidneys
• liver
• blood cells
Type II (Pompe disease)• blood vessels
• heart
• liver
• muscles
• nervous system
Type III (Forbes-Cori disease)• blood cells
• heart
• liver
• skeletal muscles
Type IV (Andersen disease)• brain
• heart
• muscles
• nervous system
• skin
Type V (McArdle disease)• skeletal muscles
Type VI (Hers disease)• blood cells
• liver
Type VII (Tarui disease)• blood cells
• skeletal muscles
Type IX (phosphorylase kinase deficiency)• liver
Type XI (Fanconi-Bickel syndrome)• intestines
• kidneys
• liver

Type I is the most common type of GSD. Around 25% of people with GSD have type I.

Types I, II, III, and IV account for 90% of all GSD cases.

Having GSD means that the individual does not have an enzyme responsible for making glycogen or converting it into glucose.

GSD is a genetic condition. It happens when a person inherits a copy of the genetic mutation from both parents.

However, the parents do not usually have the condition or experience any symptoms due to GSD.

Learn more about genetic conditions.

Means of diagnosing GSD can depend on the type.

In many states, doctors test for GSD type II as part of the newborn screening panel.

If a doctor suspects other types of GSD, they may order various tests, including:

  • genetic testing to confirm the diagnosis
  • blood tests to check blood glucose levels and how the muscles, kidney, and liver are functioning
  • an abdominal ultrasound to check for enlargement of the liver
  • a muscle or liver tissue biopsy to measure enzymes or glycogen levels

While there is no cure for GSD, treatment can help:

  • manage symptoms
  • promote growth and development
  • reduce the likelihood of complications

Treatment can depend on the type of GSD. However, it can include dietary changes such as:

  • cornstarch therapy, which involves consuming a diet that avoids sucrose, fructose, and lactose
  • consuming meals every 2 to 4 hours
  • consuming a high protein diet for some types of GSD
  • vitamin D, calcium, and iron supplements
  • a gastronomy tube, also called a G tube, for overnight feeding in some cases

Medications to manage side effects or complications, such as:

Research suggests that enzyme replacement therapy may also help treat GSD, though more studies are necessary.

GSD is a rare condition. Type I, the most common type, occurs in around 1 in every 100,000 births.

The condition is more common among people of Ashkenazi Jewish heritage, occurring in around 1 in every 20,000 births.

It is not possible to prevent GSD. However, treatments can help reduce symptoms and prevent complications.

The outlook for a person with GSD can depend on the severity of the condition and the organs it affects. However, the outlook is generally goodTrusted Source, with most individualsTrusted Source able to live an independent adult life.

According to the Children’s Hospital of Philadelphia, a person may need to visit a doctor every 3 to 6 months for a checkup. They will require regular blood work and ultrasounds to monitor symptoms.

In rare casesTrusted Source, a person may develop end stage renal disease, which may require a kidney transplant.

A person can talk with a doctor for more accurate information about their outlook based on their individual circumstances.

What role does diet play in managing glycogen storage disease?

Cornstarch therapy can help manage GSD, as it can help maintain a steady and safe glucose level. It involves consuming frequent meals throughout the day, as well as avoiding lactose, fructose, and sucrose.

Is glycogen storage disease life threatening?

In most casesTrusted Source, a person with GSD can survive into adulthood and live an independent life. However, a person may require treatment for serious complications such asTrusted Source end stage renal disease.

Can glycogen storage diseases affect children?

GSD is a genetic condition that usually begins by the time a person is a few months old. Onset of the condition can also occur at birth or in adulthood.

Is glycogen storage disease hereditary?

GSD is hereditary. A person must inherit a copy of the genetic mutation from each parent to develop the condition.

What organs does glycogen storage disease most commonly affect?

GSD most commonly affects the liver. It can also affect the kidneys, heart, intestines, blood cells, muscles, skin, brain, and nervous system.

Glycogen storage disease (GSD) is a group of rare genetic conditions. Type I, called von Gierke disease, is the most common type. These conditions affect how the body stores and breaks down glycogen.

GSD usually begins in infancy. It causes signs and symptoms such as low blood sugar levels, growth problems, an enlarged liver, and elevated levels of uric acid, lactate, and lipids.

Treatment focuses on maintaining blood sugar levels, managing symptoms, and reducing the risk of complications. Dietary changes, such as cornstarch therapy, and medications may help.