Glycogen storage disease is an inherited disorder caused by the buildup of a complex sugar called glycogen the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures.
HOW IS GLYCOGEN STORAGE DISEASE DIAGNOSED?
The health care practitioner may suggest the following investigations:
• Blood tests
• CT Scan
• Gene testing
HOW IS GLYCOGEN STORAGE DISEASE TREATED?
The treatment of glycogen storage disease is focused on correcting the metabolic changes in the body and promoting the growth and development of the child. This is normally achieved by using cornflour or nutritional supplements such as glucose. A high protein diet may also be helpful in some glycogen storage disorders. Some people with glycogen storage disorders who do not respond to nutritional supplements may occasionally need a liver transplant. People with glycogen storage disorders affecting their immune system may need to take regular antibiotic medication to protect against infection. In some glycogen storage disorders, clinical trials have successfully used treatment involving replacement of the enzymes that are deficient or not working normally.