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?
Treatment for this problem includes supplying glucose to help in manage the synthesis. Also, based on the kind of Glycogen Storage Disease one suffers from, the treatment modes tend to differ. These range from diets to medications that help in neutralising the enzymes.
DID YOU KNOW?
There are more than 11 kinds of Glycogen Storage Disease found and hence symptoms and treatments largely vary as per the type of GSD one suffers from.