Pediatric glycogen storage disease
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What is pediatric glycogen storage disease?
Glycogen storage disease (GSD) is a rare genetic condition that prevents a child’s body from making, storing or using glycogen as it should.
Glycogen is one of the body’s main forms of energy. It is stored mostly in the liver and muscles, where enzymes break it down into glucose (sugar) when the body needs more energy. If a child’s body can’t break down glycogen, it can build up over time and cause problems in their organs and muscles.
Since glycogen can’t be broken down into glucose, children can also have low blood sugar levels.
What are the different types of pediatric glycogen storage disease?
Each type of GSD has a different missing enzyme, different symptoms and different treatment.
Type 0 (Lewis' disease)
In this rare type of GSD, the liver or muscles cannot correctly create glycogen to store energy.
Type 1a and 1b (Von Gierke disease)
Type 1a and 1b are the most common types of glycogen storage disease. The enzyme needed to release glucose from glycogen is missing. This causes glycogen to accumulate in the liver and blood sugar levels to drop. Children with type 1b also have a low white blood cell count, which puts them at risk of frequent infections.
Type II (Pompe disease)
In type II, the liver does not create enough of the enzyme needed to break down glycogen, which causes a build-up in the body.
Type III (Forbes-Cori disease)
A common form of GSD that occurs when the body doesn’t have enough of an enzyme that helps break down glycogen.
Type IV (Andersen disease)
Also a common form of GSD in which glycogen forms abnormally. It triggers the immune system to attack the body’s organs, including the liver.
Type V (McArdle’s disease)
In this type of GSD, the muscles cannot break down glycogen, which can cause muscle weakness and other symptoms.
Type VI (Hers disease)
People with Hers disease are missing an enzyme that breaks down glycogen. It causes glycogen levels to rise in the body.
Type VII (Tarui disease)
In Tarui disease, the muscles are missing an enzyme needed to break down glycogen.
Type IX
People with GSD type IX are missing a liver enzyme they need to break down glycogen.
Type XI (Fanconi Bickel syndrome)
In this type of GSD, people store too much glycogen in their liver and kidneys.
What are the signs and symptoms of pediatric glycogen storage disease?
Acidosis (high acid levels in the blood)
Bruising easily
Enlarged liver
Hyperlipidemia (high blood cholesterol levels)
Intolerance to hot weather
Muscle cramps
Slow growth
Swollen abdomen
How is pediatric glycogen storage disease diagnosed?
Glycogen storage disease can be diagnosed with a thorough exam to discuss your family health history and your child’s symptoms. Your child’s doctor may also recommend:
Blood tests to check enzyme levels in your child’s blood
Genetic testing to confirm your child has GSD
A biopsy to check glycogen levels in the liver or muscles
An ultrasound to see if your child’s liver is enlarged
What causes pediatric glycogen storage disease?
Glycogen storage disease is an inherited condition caused by an abnormal gene (gene mutation). A child must inherit the abnormal gene from both parents. Often parents do not have GSD themselves, but carry the gene. If both parents carry the gene, their children have a 1 in 4 chance of having GSD.
How is pediatric glycogen storage disease treated?
There is no cure for glycogen storage disease, but it can be managed by keeping blood sugar levels normal. Our registered dietitians can help you create a nutrition plan to keep your child’s blood sugar levels from dropping too low. Your child’s plan may include:
Eating small meals throughout the day
Eating a lot of complex carbohydrates (like peas, beans, whole grains and vegetables)
Limiting sugar intake, including in fruits and sweets
Having a carbohydrate solution or uncooked cornstarch regularly to keep blood sugar normal
Eating a high-protein diet for certain types of GSD
Taking nutritional supplements to avoid vitamin deficiencies
You will need to check your child’s blood sugar throughout the day to ensure it is staying at proper levels. Our educators can help teach you and your child how to check their blood sugar.
Because GSD can cause liver damage, some children may eventually need a liver transplant.