What is type 1B glycogen storage disease?

Overview. Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body.

What are two 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 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 genetic changes in the G6PC gene. This condition is inherited in an autosomal recessive pattern.

Why neutropenia occur in glycogen storage disease?

Purpose of review: Glycogen storage disease type Ib, characterized by disturbed glucose homeostasis, neutropenia, and neutrophil dysfunction, is caused by a deficiency in a ubiquitously expressed glucose-6-phosphate transporter (G6PT).

Is glycogen storage disease the same as diabetes?

Glycogen storage disease type 1 (GSD1) and diabetes may look at first like totally opposite disorders, as diabetes is characterized by uncontrolled hyperglycaemia, whereas GSD1 is characterized by severe fasting hypoglycaemia.

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.

How is glycogen storage disease type 1 treated?

GSDI is treated with a special diet in order to maintain normal glucose levels, prevent hypoglycemia and maximize growth and development. Frequent small servings of carbohydrates must be maintained during the day and night throughout the life. Calcium, vitamin D and iron supplements maybe recommended to avoid deficits.

What is the life expectancy of someone with glycogen storage disease?

Life expectancy in GSD I is still undefined, but it has dramatically improved, compared to 30 years ago, with more and more patients surviving to adulthood (Martens et al. 2008).

What is the treatment for glycogen storage disease?

Treatment consists of taking regular doses of uncooked cornstarch and/or nutrition supplements. Cornstarch is a complex carbohydrate that is difficult for the body to digest; therefore it maintains normal blood sugar levels for a longer period of time than most carbohydrates in food.

What is the treatment for Type 1 glycogen storage disease?

Is glycogen storage disease 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.