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Glycogen Storage Diseases
Medical Questions » Glycogen Storage Diseases
| Name: Glycogen Storage Diseases |
| Also known as: |
| A number of rare inherited or congenital conditions including McArdle syndrome, von Gierke syndrome, Cori syndrome, Hers syndrome, Pompe syndrome and Andersen syndrome. |
Causes of Glycogen Storage Diseases
The enzymes and other natural chemicals in the liver that are necessary to process carbohydrates in food into glycogen and make it available to the body as a form of energy fuel, are missing or inactive. |
Symptoms of Glycogen Storage Diseases
The different diseases vary in their symptoms and effects depending upon which enzymes and chemicals are affected. Most patients have low blood sugar, large livers, short stature, subnormal mentality, and may bleed excessively and fail in their development to progress through puberty. Other forms causes muscle pain and weakness. |
Tests for Glycogen Storage Diseases
The diagnosis can be confirmed by appropriate blood tests and a liver biopsy. |
Treatment for Glycogen Storage Diseases
Special diets and liver transplant sometimes assist.
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Complications of Glycogen Storage Diseases of its treatment
None. |
Likely Outcome of Glycogen Storage Diseases
Varies from minimal effects throughout life to death in infancy, depending on which type of glycogen storage disease is present. |
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