We are independent & ad-supported. We may earn a commission for purchases made through our links.

Advertiser Disclosure

Our website is an independent, advertising-supported platform. We provide our content free of charge to our readers, and to keep it that way, we rely on revenue generated through advertisements and affiliate partnerships. This means that when you click on certain links on our site and make a purchase, we may earn a commission. Learn more.

How We Make Money

We sustain our operations through affiliate commissions and advertising. If you click on an affiliate link and make a purchase, we may receive a commission from the merchant at no additional cost to you. We also display advertisements on our website, which help generate revenue to support our work and keep our content free for readers. Our editorial team operates independently from our advertising and affiliate partnerships to ensure that our content remains unbiased and focused on providing you with the best information and recommendations based on thorough research and honest evaluations. To remain transparent, we’ve provided a list of our current affiliate partners here.

What is Glycogen Storage Disease?

By D. Jeffress
Updated Mar 03, 2024
Our promise to you
The Health Board is dedicated to creating trustworthy, high-quality content that always prioritizes transparency, integrity, and inclusivity above all else. Our ensure that our content creation and review process includes rigorous fact-checking, evidence-based, and continual updates to ensure accuracy and reliability.

Our Promise to you

Founded in 2002, our company has been a trusted resource for readers seeking informative and engaging content. Our dedication to quality remains unwavering—and will never change. We follow a strict editorial policy, ensuring that our content is authored by highly qualified professionals and edited by subject matter experts. This guarantees that everything we publish is objective, accurate, and trustworthy.

Over the years, we've refined our approach to cover a wide range of topics, providing readers with reliable and practical advice to enhance their knowledge and skills. That's why millions of readers turn to us each year. Join us in celebrating the joy of learning, guided by standards you can trust.

Editorial Standards

At The Health Board, we are committed to creating content that you can trust. Our editorial process is designed to ensure that every piece of content we publish is accurate, reliable, and informative.

Our team of experienced writers and editors follows a strict set of guidelines to ensure the highest quality content. We conduct thorough research, fact-check all information, and rely on credible sources to back up our claims. Our content is reviewed by subject matter experts to ensure accuracy and clarity.

We believe in transparency and maintain editorial independence from our advertisers. Our team does not receive direct compensation from advertisers, allowing us to create unbiased content that prioritizes your interests.

Glycogen storage disease is an inherited disorder that affects metabolism. Individuals with the condition are either unable to create glycogen or their bodies cannot convert stored glycogen to usable glucose. Most medical authorities believe that there are at least 11 different forms of glycogen storage disease, each occurring in one or more specific parts of the body, especially in the liver, muscles, or intestines. Many people with a form of the disease are subject to hypoglycemia, muscle cramps and weakness, and possible failure of vital organs like the heart or kidneys.

Glucose is a type of blood sugar that provides the body's cells with the energy. Glucose is digested and processed from many different foods and liquids, introduced into the bloodstream, and carried to cells throughout the body. After meals, healthy bodies store excess glucose for later use by converting it to glycogen. When a person needs extra energy, enzymes activate glycogen molecules and convert them back into usable glucose. An individual who has a glycogen storage disease, however, may not be able to convert glycogen into glucose because of an enzyme deficiency.

A glycogen storage disease may manifest in a single part of the body, such as the liver or certain muscles, or be more widespread. The different types of storage diseases are classified by the organs or muscles affected, the type of enzyme deficiency, and the symptoms that are present. Since glycogen storage diseases are congenital, symptoms are usually recognized in infancy. A baby with a form of the disease might suffer from hypoglycemia, a swollen liver, muscle cramps, aches, and a lack of energy. Depending on the specific enzyme deficiency, a child may be subject to anemia, delayed or stunted growth, renal failure, heart failure, or even death.

Pediatricians and specialists usually diagnose glycogen storage disease by conducting physical examinations, investigating family history, and collecting blood and urine samples for laboratory analysis. The presence or absence of glucose, enzymes, and cholesterol in blood and urine screenings allow doctors to determine the specific type of a glycogen storage disease. Once a diagnosis has been made, treatment plans can be considered and enacted immediately in an effort of preventing long-term health problems.

Enzyme replacement therapy is an effective form of treatment for some types of glycogen storage diseases. A doctor injects a solution containing specific enzymes directly into a patient's bloodstream, promoting better regulation of glycogen levels and increasing the body's ability to use glucose. Treatment may also involve careful monitoring of dietary intake to prevent hypoglycemia and related health issues. Babies need frequent feedings of foods that are high in carbohydrates and free from sucrose and lactose in order to promote healthy glucose production. Medical researchers are continuously experimenting with various intravenous and oral medications in hopes of finding a more effective means of treatment for glycogen storage diseases.

The Health Board is dedicated to providing accurate and trustworthy information. We carefully select reputable sources and employ a rigorous fact-checking process to maintain the highest standards. To learn more about our commitment to accuracy, read our editorial process.

Discussion Comments

The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.

The Health Board, in your inbox

Our latest articles, guides, and more, delivered daily.