What are the different types of glycogen storage disease?
Types of GSD
- Type I or von Gierke disease. This is the most common form of GSD.
- Type III, Cori disease, or Forbes disease. People with type III don’t have enough of an enzyme called the debranching enzyme, which helps break down glycogen.
- Type IV or Andersen disease. People with type IV form abnormal glycogen.
What is glycogen storage disease type 4?
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 is Type 0 glycogen storage disease?
Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body’s inability to form a complex sugar called glycogen, which is a major source of stored energy in the body.
What causes glycogen storage disease type 1?
Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene . This condition is inherited in an autosomal recessive pattern.
What are the symptoms of glycogen storage disease type 1?
What are the symptoms of GSD I? Children born with GSD I typically exhibit growth failure, chronic hunger, fatigue, irritability, an enlarged liver, and a swollen abdomen. Blood tests may indicate low blood sugar concentration and higher than normal levels of lipids and uric acid.
What is glycogen storage disease type 7?
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.
Which is the most common type of glycogen storage disease?
There are several types of GSD, but the most common types are types I, III, and IV. These types are also known by other names: Type I or von Gierke disease. This is the most common form of GSD. People with type I don’t have the enzyme needed to turn glycogen into glucose in the liver. Glycogen builds up in the liver.
How is glycogen storage disease ( GSD ) passed down?
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar. It is passed down from parents to children (inherited). For most GSDs, each parent must pass on one abnormal copy of the same gene. Most parents do not show any signs of GSD.
Is there a way to prevent glycogen storage disease?
There is no way to prevent glycogen storage disease. But early treatment can help control symptoms once a child has GSD. If you or your partner have GSD, or a family history of this disease, see a genetic counselor before you get pregnant. He or she can find out your chances of having a child with GSD.
How are glycogen metabolism and glycolysis disorders related?
GSD, glycogen storage disorder. Mutations in genes encoding individual enzymes in the glycogen metabolism pathway lead to a class of diseases named glycogen storage disorders (GSDs), whereas defects in glucose oxidation are identified as glycolysis defects.