Glycogen Storage Disease Type 0
What else is it called?
- Liver GSD 0
- Liver Glycogen storage disease 0
- Hepatic glycogen synthase deficiency
- Liver glycogen synthase deficiency
- GSD 0
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What causes it?
Glycogen storage disease is passed down from parents to children. It happens because both parents have an abnormal gene (gene mutation) that affects a specific way the glycogen is stored or used. In most cases parents don’t show any symptoms of the disease.
The condition is caused by the body’s inability to form glycogen, glycogen is a major source of stored energy in the body and is used to give us energy. There are two types of Glycogen Storage Disease 0; Muscle GSD 0 and Liver GSD 0. Muscle GSD 0 is where glycogen formation in the muscles is impaired and Liver GSD 0 is where glycogen formation in the liver is impaired.
Glycogen Storage Disease 0 is inherited via an autosomal recessive inheritance pattern, please see diagram below.
How common is it?
Currently the prevalence of GSD 0 is unknown, however it is believed that less than 1 in 1,000,000 are affected. t is thought that due to the nature of the symptoms of both muscle and liver GSD 0, GSD 0 is underdiagnosed.
What are the signs and symptoms?
Muscle GSD 0:
- Muscle pain and weakness
- Episodes of fainting lasting several hours, following moderate physical activity.
- Disruption of the heart’s normal rhythm (affecting those with muscle GSD 0)
- There is an increased risk of cardiac arrest.
Liver GSD 0:
- Low blood sugar after going long periods of time without food.
- Pale skin
Development delay and growth failure.
How is it diagnosed?
GSD 0 is diagnosed via ‘genetic testing’. Genetic testing is a type of medical test that identifies changes in chromosomes, genes or proteins. Genetic Testing is voluntary, and you will need to speak to your GP for more information regarding the referral process.
Can it be treated?
In general, no specific treatment exists to cure GSD 0. In some cases, diet therapy is helpful. Patients with GSD 0 will be referred to a specialist dietician who will provide a dietary plan. Adherence to this plan may reduce liver size and prevent or reduce the risk of symptoms. Patients diagnosed with GSD 0 will be referred to a Metabolic Specialist for further consultation and treatments.
Do my family need to be tested?
Glycogen storage disease type 0 is an inherited condition. Humans have chromosomes made up of DNA. Genes are pieces of DNA that carry the genetic information. Each chromosome may have several thousand genes. We inherit chromosomes from the egg of the mother and sperm of the father. The genes on those chromosomes carry the instructions that determine a person’s characteristics, which are a combination of the parents.
The pattern of inheritance of glycogen storage disease type 0 is autosomal recessive. This means that carriers of the condition do not have the disorder because the other gene of this pair is working normally. Parents of children with glycogen storage disease type 0 are carriers.
When both parents are carriers, the risk to the baby in each pregnancy is
- 25% chance (1 in 4) of developing the condition
- 50% chance (1 in 2) for the baby to be a carrier of the condition
- 25% chance (1 in 4) for the baby to have two working genes and neither have the condition nor be a carrier
Genetic counselling can be requested to get a full explanation.
For more information, please visit Association for Glycogen Storage Disease UK.