Glycogen Storage Diseases: Types, Diagnosis & Symptoms of GSD | Max Hospital

All You Need to Know about Glycogen Storage Disease

By Dr. Brajendra Prasad Singh in Gastroenterology, Hepatology & Endoscopy

Feb 13 , 2024 | 7 min read

Glycogen Storage Diseases (GSD) is a collective name used for a group of rare genetic metabolic disorders affecting the body's ability to process glycogen, a vital energy source stored in the liver and muscles. The disorders in the group lead to enzyme deficiencies, causing abnormal glycogen accumulation or breakdown. As a result, affected individuals face challenges in maintaining normal blood sugar levels, which typically affects their liver, but can also impact muscles and sometimes other organs. In this article, we present a comprehensive overview of GSD, including insights into their management. Read on.

Types of Glycogen Storage Diseases

There are various types of glycogen storage diseases, each classified based on the specific enzyme that is deficient. Some common types of GSD include:

1. Von Gierke disease (GSD I)

This type of GSD involves a deficiency in the enzyme glucose-6-phosphatase, which is essential for converting glycogen into glucose in the liver. Individuals with Von Gierke disease experience issues in maintaining normal blood sugar levels, resulting in hypoglycemia and an enlarged liver.

2. Pompe Disease (GSD II)

Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase. It results in the accumulation of glycogen in various tissues, primarily affecting muscles. This leads to muscle weakness, particularly in the heart and skeletal muscles.

3. Andersen's Disease (GSD IV)

Andersen's disease involves a deficiency of the enzyme branching enzyme, leading to the abnormal structure of glycogen. It results in the accumulation of abnormal glycogen molecules, leading to liver and heart issues, causing fibrosis and cirrhosis in the liver.

4. McArdle Disease (GSD V)

McArdle disease is caused by a deficiency of the enzyme myophosphorylase, leading to difficulties in breaking down glycogen into glucose in muscle cells. This results in exercise-induced muscle pain, cramping, and fatigue.

5. Hers Disease (GSD VI)

Hers disease involves a deficiency in the enzyme liver phosphorylase. This condition leads to the abnormal breakdown of glycogen in the liver, causing liver enlargement and increased glycogen storage.

6. Tarui Disease (GSD VII)

Tarui disease is characterized by a deficiency in the enzyme phosphofructokinase, which is important in glycolysis. This results in exercise intolerance, muscle pain, and the production of an abnormal form of glycogen in muscle cells.

7. Fanconi-bickel Syndrome (GSD XI)

Fanconi-Bickel syndrome is caused by mutations in the gene responsible for the glucose transporter protein. This leads to the accumulation of glycogen and other substances in various tissues, leading to a range of symptoms, including liver and kidney issues, as well as growth and development problems.

Symptoms of Glycogen Storage Disease

Symptoms of Glycogen Storage Diseases (GSDs) can vary depending on the specific type of GSD an individual has. However, some general symptoms may include:

  • Hypoglycemia: Low blood sugar levels due to the body's inability to release stored glucose when needed, leading to weakness, dizziness, and fatigue.
  • Enlarged Liver (Hepatomegaly): Accumulation of glycogen in the liver can cause it to enlarge, leading to an abdominal bulge or discomfort.
  • Muscle Weakness: Difficulty in performing physical activities due to impaired energy release from glycogen in muscles.
  • Fatigue: Difficulty with sustained physical activity, leading to muscle pain, cramping, and fatigue, particularly during exercise.
  • Enlarged Heart (Cardiomegaly): Some GSD types can impact the heart, leading to an enlarged heart or other cardiac issues.
  • Delayed Growth and Development: Affected children may experience delayed growth, delayed puberty, or developmental delays.
  • Breathing Difficulties: Respiratory problems can occur in certain GSD types due to muscle weakness affecting the chest muscles or respiratory function.

The aforementioned symptoms can vary in severity and presentation based on the specific GSD type. It's essential for individuals exhibiting any concerning symptoms or signs to seek medical evaluation for proper diagnosis and management.

Glycogen Storage Disease Diagnosis

1. Clinical Evaluation

The diagnostic process begins with a comprehensive clinical evaluation, where the doctor takes a detailed medical history and performs a thorough physical examination. During this stage, the doctor assesses various symptoms, including hypoglycemia, hepatomegaly (enlarged liver), muscle weakness, exercise intolerance, and cardiac issues that may indicate GSD.

2. Laboratory Tests

Blood tests are a fundamental component of the GSD diagnostic process. Commonly required tests include:

  • Blood Sugar: Fasting and post-meal glucose levels are monitored to identify abnormalities in blood sugar regulation.
  • Liver Function Test (LFT): These tests evaluate liver health and function, as GSDs often affect the liver.
  • Enzyme Assays: Specific enzyme tests are conducted to identify deficiencies in enzymes associated with glycogen metabolism.

3. Genetic Testing

Genetic testing is a critical step in confirming the diagnosis of GSDs. This involves a DNA analysis to identify specific genetic mutations linked to the suspected GSD subtype. The testing provides a definitive diagnosis by pinpointing the exact genetic abnormalities responsible for the condition.

4. Imaging Studies

  • Ultrasound: Used to evaluate the size and condition of the liver, which is often affected in GSD.
  • MRI & CT Scans: These tests help assess muscle health and detect any tissue abnormalities associated with certain GSD types.

5. Biopsy

In some cases, a biopsy of liver or muscle tissue may be recommended for the following reasons:

  • Examine Glycogen Accumulation: Biopsies help in observing glycogen accumulation within tissues.
  • Assess Tissue Damage: Tissue samples are analyzed under a microscope to determine the extent of tissue abnormalities caused by GSD.

6. Specialized Testing

Depending on the suspected GSD type, specialized tests for the condition's characteristics might be conducted to evaluate enzyme activity related to glycogen metabolism. Specific studies may also be carried out to observe glycogen accumulation in particular tissues.

The GSD diagnostic process often involves a collaborative effort of various specialists, including geneticists, metabolic experts, and other healthcare professionals with expertise in GSDs. Once a diagnosis is confirmed, ongoing monitoring and management become critical to address symptoms, prevent complications, and enhance the quality of life for affected individuals.

Treatment of Glycogen Storage Diseases

While there's no cure for GSDs, various strategies can help manage the condition. These include:

Dietary Modifications

A carefully controlled diet is crucial in managing GSDs. It often involves:

  • Balanced Carbohydrate Intake: Patients are recommended to follow a diet with controlled carbohydrate intake to avoid fluctuations in blood sugar levels.
  • Frequent Meals: Consuming smaller, frequent meals can help maintain stable blood sugar levels throughout the day.
  • Fasting Avoidance: Due to the risk of hypoglycemia, patients are advised against fasting for extended periods.
  • Dietary Supplements: In some cases, specific dietary supplements, such as cornstarch, are used to provide a slow-release source of glucose and help prevent hypoglycemia.


Depending on the specific GSD type and its associated symptoms, patients might be prescribed medications to manage various aspects of the condition. For example, some patients with muscle-related GSDs may receive treatment to address muscle weakness, while others might require medications to manage cardiac issues.


Continuous monitoring of blood sugar levels, liver function, and overall health is vital for patients with GSDs. Regular check-ups with healthcare providers allow for the early identification of any emerging complications or issues.

Regulated Exercise

Exercise can be beneficial for individuals with GSDs, but it must be carefully managed. Working with healthcare professionals, patients can develop an exercise plan that minimizes muscle-related symptoms and prevents complications triggered by physical activity.

The management of GSD requires specialized care, individualized treatment plans, and ongoing support. If you or a loved one is affected by GSD or if you suspect the presence of this rare genetic disorder, seeking expert consultation and care is paramount. Max Hospitals has a team of experienced specialists, metabolic experts, genetic counselors, and healthcare professionals dedicated to managing GSDs. Equipped with state-of-the-art facilities and personalized treatment approaches, we ensure you receive the best possible care and support.

Frequently Asked Questions about Glycogen Storage Disease

Q1. Can Glycogen Storage Disease be detected before birth?

In some cases, prenatal testing, including genetic testing, can detect certain GSD types. Families with a history of GSD or known genetic mutations might consider genetic counseling and prenatal testing.

Q2. Can Glycogen Storage Disease affect life expectancy?

Life expectancy for individuals with GSD varies depending on the type and severity of the condition. Proper management and regular medical care can significantly improve health outcomes.

Q3. Can adults be diagnosed with Glycogen Storage Disease?

While symptoms might often appear in childhood, some GSD types can present symptoms or be diagnosed in adulthood, particularly those associated with milder or later-onset forms.

Q4. Can Glycogen Storage Disease affect pregnancy?

GSD themselves don't directly impact pregnancy, but for individuals affected by GSD, careful management of their condition, including diet and monitoring, is crucial during pregnancy.

Q5. Can individuals with Glycogen Storage Disease lead normal lives?

Yes, individuals with GSD can lead fulfilling lives, with careful adherence to dietary guidelines, regular medical care, and lifestyle adjustments.

Q6. Is it possible for individuals with GSD to work and have careers?

Many individuals with GSD lead successful professional lives. However, adjustments to manage symptoms and considerations regarding energy levels may be necessary.

Q7. What should I do if I suspect someone has GSD?

If you suspect GSD due to specific symptoms, such as low blood sugar, muscle weakness, or liver enlargement, it's essential to seek medical attention for a thorough evaluation.

Q8. Is Glycogen Storage Disease fatal?

The severity of GSDs varies, and while some GSD types may pose life-threatening complications, proper management and care significantly improve life expectancy.

Q9. Can stress or illness affect Glycogen Storage Disease?

Stress or illness can impact individuals with GSD, potentially affecting blood sugar levels or energy management. It's crucial to manage such conditions.

Q10. What precautions can individuals with GSD take during emergencies?

Individuals with GSD should have an emergency plan in place, including carrying a source of glucose in case of hypoglycemia and informing healthcare providers about their condition during emergencies.

Q11. Can GSD cause cognitive issues or affect the brain?

Cognitive issues are not typically associated with GSD, but some GSD types can affect the brain due to metabolic issues. Careful management is important to prevent any potential impact.