Children's Hospital Colorado
Pediatric Liver Center

Glycogen Storage Disease, Type 1a (GSD1A)

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What is glycogen storage disease?

There are several different types of glycogen storage disease (GSD). All types of GSD are congenital, which means every person who has it is born with it. And in every case, GSD is a genetic, inherited condition in which the liver cannot release sugar into the blood, and consequently stores the sugar in the form of glycogen. As a result, a high level of sugar is stored in the liver and not enough glucose is released into the blood, which leads to a condition called hypoglycemia (low blood sugar).

Sugars, including glucose, are found in food and are used as a source of energy for the body. Typically, when the body has extra sugars, it stores them in the form of glycogen to use at a later time. Glycogen needs to be processed by enzymes in order for the body to use it as energy. People with GSD are missing the enzyme needed to break down glycogen, so the body cannot use it for energy. This can lead to health problems such as impaired growth, delayed puberty and enlarged liver and kidneys.

Although there are several types of GSD, this article focuses on glycogen storage disease, Type 1a, which is the most common type of GSD. It accounts for about 90% of all types of GSD. Glycogen storage disease, Type 1a, is also called GSD1a or Von Gierke disease.

What causes GSD1a?

GSD1a is inherited and is caused by unique genetic changes in the order of genes, which dictates how the body is formed and what cells it produces. In this case, the genetic changes specifically affect the sequence of a gene called G6PC.

Who gets GSD1a?

GSD1a is a rare, congenital disease that begins to show signs in infancy and childhood and affects all genders and ethnicities equally.

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