What is Type 4 glycogen storage disease?
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles .
What is Andersons disease?
Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.
What are the symptoms of glycogen storage disease?
What are the symptoms of glycogen storage disease in a child?
- Not growing fast enough.
- Not feeling comfortable in hot weather (heat intolerance)
- Bruising too easily.
- Low blood sugar (hypoglycemia)
- An enlarged liver.
- A swollen belly.
- Weak muscles (low muscle tone)
- Muscle pain and cramping during exercise.
What are the different types of glycogen storage disease?
Types of Glycogen Storage Disease
- Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases.
- Type II (Pompe’s disease, acid maltase deficiency)
- Type III (Cori’s disease)
- Type IV (Andersen’s disease)
- Type V (McArdle’s disease)
Is GSD fatal?
Because they affect so many organ systems, GSD Type II (Pompe’s disease) and GSD Type IV (Andersen’s disease) are very hard to treat and can be fatal. Research into enzyme replacement therapy and gene therapy is promising, which may improve the outlook for the future.
Is McArdle disease fatal?
The disease can lead to dark urine. Severe, uncontrolled McArdle disease can cause life-threatening kidney problems.
What is Forbes disease?
Forbes’ disease, also called Cori’s disease, or glycogenosis type III, rare hereditary disease in which the the metabolic breakdown of glycogen to the simple sugar glucose is incomplete, allowing intermediate compounds to accumulate in the cells of the liver.
What is McArdle’s disease?
McArdle disease (GSD 5) is a rare, genetic muscle disorder. It is an inherited disease. It is a type of glycogen storage disease. It results from a lack of a key substance that the muscles need to break down glycogen into sugar (glucose) for energy. The condition causes tiredness and muscle pain during exercise.
Is glycogen storage disease curable?
How is glycogen storage disease treated? There is currently no cure for GSD. After diagnosis, children with GSD are usually cared for by several specialists, including specialists in endocrinology and metabolism.
What is the treatment for glycogen storage disease?
In general, no specific treatment exists to cure glycogen storage diseases (GSDs). In most cases, the mainstay of management involves measures to reduce hypoglycemia, including frequent meals and consumption of uncooked cornstarch.
What is glycogen storage disease type 5?
What is Type 1 glycogen storage disease?
Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of excessive glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature.