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Glycogen Storage Disease

Glucose is an important energy source for the body. After it is stored in the body, it is now called glycogen. It will be released into the blood and with the help of special proteins called enzymes will be converted into an energy source.

When a person has GSD, certain enzymes are missing. It will prevent the liver to control the use of glycogen in the body. As a result, the abnormal amount of glycogen is stored in the liver. Also, hypoglycemia or not enough glucose in the blood will set in.

There are many types of sugar found in the food and beverages we drink. After every meal, the blood sugar level is elevated. The body will store the extra glucose that is not needed right away. Once stored the glucose is now called glycogen. The body will store the glycogen in the muscles and the liver. The moment blood sugar levels begin to drop, the body uses glycogen as the source of energy. However, enzymes are needed to process the glycogen to carry out their functions. If these enzymes are missing, the glycogen can build up in the liver which will cause problems.

Whenever glucose is converted into glycogen, different enzymes are needed for the conversion process. If one enzyme is missing or defective, the process will stop. These enzyme defects are now called glycogen storage disease. There are at least 10 types of glycogen storage disease or GSD. The most common are types I, III and IV.

The signs and symptoms are based on the enzyme that is missing. Since GSD occurs mainly in muscles and the liver, this is where the symptoms are most commonly seen:

  • Not growing fast enough
  • Abnormal blood test
  • A swollen belly
  • Low blood sugar or hypoglycemia
  • Muscle pain and cramping during exercise
  • Enlarged liver
  • Weak muscle tone

The treatment will depend on what type of GSD an individual is suffering. Some GSD is treatable while others don’t. Those that can be treated are easy to control by treating the symptoms. Proper diet and the frequency of the meals are carefully planned. Medication is often necessary to reduce inflammation and complications.

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If you think you are suffering from Glycogen Storage Disease you should seek medical assistance. You may also be entitled to Social Security Disability Benefits. The SSA considered Glycogen Storage Disease as a medical condition that would make you eligible for SSDI and SSI. Social Security Administration (SSA) maintains a “Listing of Medical Impairments” (known as the blue book) that automatically qualify you for Social Security Disability Insurance (SSDI) or Supplemental Security Income (SSI).