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Glycogen storage disease

Glycogen storage disease Causes

The cause of glycogen storage disease is genetic. A child will have the condition if both parents have a defected gene. Both parents carrying the defective gene may mean: a 25% chance the child will be diagnosed with GSD; a 50% chance that their child will be a carrier, and a 25% chance that the child will have normal genes and not inherit the disease.

Glycogen storage disease Definition

Glycogen storage disease (GSD) refers to a group of conditions caused by enzyme defects affecting glycogen synthesis and resulting in inborn errors of metabolism. It is also known by the names dextrinosis and glycogenosis. Nine diseases make up the classification of glycogen storage disease.

Glycogen storage disease Diagnosis

Diagnosing GSD requires these results on a laboratory exam: low blood sugar, growth problems, and abnormal blood test results. An enlarged liver is also a major diagnosis of GSD. Liver tissue sampling is also conducted to determine if enzymes are missing.

Glycogen storage disease Symptoms and Signs

Symptoms depend on the type of enzyme lacking in the body. The muscle and liver are the most affected areas, so those are usually the locations where symptoms are most notieceable. These may include enlarged liver, growth failure, swollen belly, low blood sugar, and muscle cramps.

Glycogen storage disease Treatment

The treatment will depend on the type of the GSD. Although some cannot be treated, others are fairly easy to control in terms of their symptoms. The treatable types of GSD can be managed by intake of high carbohydrate meals in the daytime, consumption of uncooked cornstarch every 4 to 6 hours for children over 2 years old, regular nighttime feeding through a tube, and drug treatment to prevent kidney stones and gout.

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