What is glycogen storage disease type 3?
GSD-III is a genetic disorder characterized by variable liver, cardiac muscle and skeletal muscle abnormalities. Symptoms are associated with abnormalities in the AGL gene, causing deficiency of the glycogen debranching enzyme. GSD-III is inherited as an autosomal recessive trait.
What are the glycogen storage disease?
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen is a main source of energy for the body. Glycogen is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose.
What are the symptoms of Forbes disease?
Children with the disease have enlarged livers (which usually become normal in size by puberty), are generally stunted in growth, have doll-like facial features, and experience muscular weakness.
What is Type 3 liver disease?
Glycogen storage disease type III (also known as GSDIII or Cori disease) 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.
Is there a cure for Cori’s disease?
There is not currently a cure for for glycogen storage disease type 3 (GSDIII). In some cases, diet therapy is helpful. Strict adherence to a dietary regimen may reduce liver size, prevent hypoglycemia (low blood sugar), help to reduce symptoms, and allow for growth and development.
Is there a cure for glycogen storage disease?
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.
How do you test for glycogen storage disease?
Glycogen storage disease is diagnosed by examining a piece of muscle or liver tissue under a microscope (biopsy) and by doing magnetic resonance imaging (MRI) to detect glycogen in the tissues. Other tests, such as skin and blood tests, are done to determine the specific type of glycogen storage disease.
What are the symptoms of glycogen storage disease?
In most cases, glycogen storage disease starts early in life. Depending on the type of GSD , the symptoms range from mild to severe — with muscle pain, enlarged organs, stunted growth, low blood sugar, and muscle weakness being a few of the most common side effects [*].
What does glycogen storage disease stand for?
Glycogen storage disease (GSD) is a genetic condition in which the body has an enzyme problem and is not able to store or break down the complex sugar glycogen properly. GSD affects the liver, muscles and other areas of the body.
What is the history of glycogen storage disease?
It is the most common of the glycogen storage diseases. GSD I has an incidence of approximately 1 in 100,000 births in the American population, and approximately 1 in 20,000 births among Ashkenazi Jews. The disease was named after German doctor Edgar von Gierke, who first described it in 1929 .