Glycogen storage disease type 1A
Glycogen storage disease type 1A (GSD type 1a) is a very rare disorder also known as von Gierke's disease. It is caused by a deficiency of the enzyme glucose-6-phosphatase G6PC. GSD type 1a accounts for about 25 percent of cases of glycogen storage diseases among people of European ancestry. The disease is more common among Ashkenazi Jews. It is treated with a special diet, but serious complications may still occur. Carriers of a single risk allele are usually not affected.
Nearly a hundred different mutations have been identified in the G6Pase gene.
- rs1801175, also known as R83C, represents pretty much the only mutation leading to GSD type 1a found in Ashkenazi Jews