Glycogen storage disease type 0

Glycogen storage disease type 0 (also known as GSD 0) is a rare genetic disorder that affects the body's ability to regulate blood sugar levels. It is caused by mutations in the GYS2 gene, which provides instructions for making an enzyme called liver glycogen synthase. This enzyme is responsible for the production of glycogen, a complex sugar that is the primary storage form of glucose in the body.

Symptoms

The symptoms of GSD 0 typically become apparent in early childhood and can vary in severity. They may include:

• Hypoglycemia (low blood sugar)
• Growth delay
• Fatigue
• Irritability
• Tachycardia (fast heart rate)

Causes

GSD 0 is caused by mutations in the GYS2 gene. This gene provides instructions for making an enzyme called liver glycogen synthase, which is responsible for the production of glycogen. When the GYS2 gene is mutated, the liver cannot properly store or release glycogen, leading to the symptoms of GSD 0.

Diagnosis

The diagnosis of GSD 0 is typically made based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include:

• Blood tests
• Genetic testing
• Liver biopsy

Treatment

There is currently no cure for GSD 0, but the condition can be managed with a carefully planned diet to maintain stable blood sugar levels. This typically involves frequent meals and snacks that are high in complex carbohydrates and protein.

Prognosis

With proper management, individuals with GSD 0 can lead normal, healthy lives. However, they must be vigilant about maintaining stable blood sugar levels to prevent hypoglycemia and other complications.

See also

• Glycogen storage disease
• Glycogen
• GYS2

References

Glycogen storage disease type 0 Resources
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