Glycogen storage diseases
Glycogen storage diseases: Introduction
Glycogen storage diseases are a group of inherited genetic diseases. Glycogen storage diseases are caused by a defect in a gene that is inherited from both parents and causes the excessive buildup of glycogen in the tissues.
Glycogen is the form of glucose that is stored in the body until it is needed. Glucose is a simple sugar that is necessary for the body's production of energy. Glycogen is stored in the liver and muscles of the body.
In glycogen storage diseases, excessive glycogen build-up in the muscles and/or liver, resulting in symptoms, such as low blood sugar, muscle cramps, slow growth and enlarged liver. Symptoms and complications vary depending on the specific type of glycogen storage disease.
There are eight types of glycogen storage diseases, designated as type I - type VIII. Glycogen storage diseases type I, III, IV and VI affect the liver. Symptoms can include enlarged liver, low blood sugar and cirrhosis of the liver.
Glycogen storage diseases type V and VII affect the muscles. Symptoms can include muscle cramps and fatigue with exercise.
Symptoms of glycogen storage disease type VIII can include muscle weakness, anemia, and high levels of uric acid.
Glycogen storage disease type II can affect both the liver and heart. Symptoms can include enlarged heart and enlarged liver. In severe cases heart failure may occur in infanthood. For more details on complications and symptoms, refer to symptoms of glycogen storage diseases.
Making a diagnosis of a glycogen storage disease begins with taking a thorough medical and family history, including symptoms. A physical examination is also performed.
Testing for glycogen storage disease includes a biopsy of the affected organs, blood and urine tests and MRI imaging test. A fasting blood glucose test is done to determine if low blood sugar is present. Liver function tests can help to evaluate the functioning of the liver. A complete blood count (CBC) and uric acid tests can determine of anemia and/or high levels of uric acid are present in the blood. Other tests are performed to determine overall heath.
It is possible that a diagnosis of glycogen storage disease can be missed or delayed because symptoms vary between individuals and can be similar to symptom of other diseases, conditions or disorders. For more information on misdiagnosis, refer to misdiagnosis of glycogen storage diseases.
There is no cure for or way to prevent glycogen storage diseases, but they can be treated to minimize symptoms and control the disease. Treatment varies depending on the specific type of glycogen storage disease but may include dietary adjustments, medications and lifestyle changes. In certain severe cases, a liver transplant may be necessary. For more information on treatment, refer to treatment of glycogen storage diseases. ...more »
Glycogen storage diseases: A condition which is characterized by a defect in the ability of the body to store glycogen.
More detailed information about the symptoms,
causes, and treatments of Glycogen storage diseases is available below.
Glycogen storage diseases: Symptoms
The types and severity of symptoms of glycogen storage diseases vary between individuals and differ based on the specific type of glycogen storage disease.
Typical symptoms include low blood sugar, muscle cramps, slow growth, and enlarged liver.
There are eight types of glycogen storage diseases, designated as type I - type VIII. Glycogen storage diseases type I, III, IV ...more symptoms »
Glycogen storage diseases: Treatments
Glycogen storage disease is not curable. However early diagnosis and consistent compliance with a good treatment program can help to reduce symptoms and complications.
There is no way to prevent glycogen storage disease. Treatment plans for glycogen storage diseases include a multifaceted approach that is tailored to the individual case and specific type of glycogen ...more treatments »
Glycogen storage diseases: Misdiagnosis
A diagnosis of glycogen storage disease may be delayed or missed because the symptoms can vary in individuals and are different in the various forms of the disease. Symptoms can also mimic symptoms of a wide variety of other conditions, such as hypoglycemia, cirrhosis of the liver and dehydration.
Only a thorough evaluation by a physician or licensed health ...more misdiagnosis »
Symptoms of Glycogen storage diseases
See full list of 9
symptoms of Glycogen storage diseases
Home Diagnostic Testing
Home medical testing related to Glycogen storage diseases:
- Liver Health & Hepatitis: Home Testing
Wrongly Diagnosed with Glycogen storage diseases?
Causes of Glycogen storage diseases
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Disease Topics Related To Glycogen storage diseases
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Misdiagnosis and Glycogen storage diseases
Chronic liver disease often undiagnosed: One study reported that 50% of patients
with a chronic liver disease remain undiagnosed by their primary physician.
The...read more »
Read more about Misdiagnosis and Glycogen storage diseases
Glycogen storage diseases: Research Doctors & Specialists
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Evidence Based Medicine Research for Glycogen storage diseases
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Glycogen storage diseases: Animations
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Research about Glycogen storage diseases
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Clinical Trials for Glycogen storage diseases
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Glycogen storage diseases include:
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Clinical Trials for Glycogen storage diseases
Glycogen storage diseases: Broader Related Topics
Types of Glycogen storage diseases
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