Glycogen Storage Disease, Type 1a (GSD1A)
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.
What are the signs and symptoms of GSD1a?
Children with GSD1a may have several signs and symptoms linked to the disease, including:
- Fatigue caused by hypoglycemia
- Possibility of seizures caused by hypoglycemia
- Impaired growth and delayed puberty
- Bone thinning from osteoporosis
- Increased mouth ulcers and infections
- Swelling and abdominal pain caused by enlarged liver and kidneys
What tests are used to diagnose GSD1a?
Blood tests can point to a GSD1a diagnosis. For those with GSD1a, blood tests often show high levels of lactic acidosis, ketoacidosis, uric acid and lipids. To confirm the diagnosis of GSD1a, we perform a genetic test.
How do we make a diagnosis for GSD1a?
In order to perform genetic testing for GSD1a, we’ll take a blood sample from your child and send it to a national laboratory we partner with for testing. The laboratory may take 4 to 6 weeks to report the results back to us.
We diagnose GSD1a based on clinical signs and symptoms and the diagnosis is confirmed with genetic testing.
Why choose us for diagnosing GSD1a?
Our Pediatric Liver Center is one of the largest in the country and provides a fast and targeted approach to accurately diagnosing GSD1a. We partner with the Genetics and Inherited Metabolic Diseases Program to provide the most cutting-edge methods of care.
How is GSD1a treated?
GSD1a treatment in infancy and childhood focuses on ensuring adequate glucose availability. This means developing a plan to avoid any period of fasting beyond 4 to 6 hours. We’ll also teach you and your family techniques that help to extend the availability of glucose using certain foods. You can use uncooked cornstarch, for example, as a source of slowly releasing glucose, which we usually recommend giving to your child regularly throughout the day.
We’ll teach you how to track blood glucose and ketones throughout the day and adjust the plan accordingly. Through follow-up appointments, we’ll also monitor signs of complications associated with GSD1a, such as renal disease, lactic acidosis, enlarged liver, osteoporosis and liver adenoma formation. We provide long-term monitoring and care for these associated diseases and plan treatment accordingly.
Why choose us for treatment of GSD1a?
Our Pediatric Liver Center is at the forefront in caring for children with GSD1a. In collaboration with the Genetics and Inherited Metabolic Diseases Program, we are spearheading research at the national level to understand the natural progression of this disease, as well as offering treatment trials with the goal of decreasing the severity of symptoms and avoiding hypoglycemia and other chronic disease complications.
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