Glycogen storage disease


A glycogen storage disease is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis, typically in muscles and/or liver cells.
GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.

Types

Remarks:

Treatment

Treatment is dependent on the type of glycogen storage disease. GSD I is typically treated with frequent small meals of carbohydrates and cornstarch, called modified cornstarch therapy, to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor.

Epidemiology

Overall, according to a study in British Columbia, approximately 2.3 children per 100,000 births have some form of glycogen storage disease. In the United States, they are estimated to occur in 1 per 20,000–25,000 births. Dutch incidence rate is estimated to be 1 per 40,000 births.
While a Mexican incidence showed 6.78:1000 male newborns.