Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine. There are 11 types of glycogen storage disease. The symptoms include:
1. Muscle weakness, myopathy, muscle cramps
2. Cardiac failure
3. Renal failure
4. Growth retardation
HOW IS GLYCOGEN STORAGE DISEASE DIAGNOSED?
The condition is usually diagnosed at birth when infants show signs of an enlarged liver and failure to thrive in the first year of their life. They may even develop liver cirrhosis by the age of 5.
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.
DID YOU KNOW?
GSD may cause uric acid build up in your body. This buildup can cause gout and kidney stones. Some children are advised to restrict physical exercise to avoid muscle cramps.