Glycogen Storage Disease, Type Ia (G6PC)

Glycogen storage disease type 1a (GSD1a) is an autosomal recessive disease caused by pathogenic variants in the gene G6PC. GSD1a affects the bodys ability to convert food into energy, meaning that affected individuals easily become hypoglycemic (low blood sugar). Symptoms begin at around 3 to 4 months of age with hypoglycemia, enlarged liver, and seizures. Treatment with frequent feedings and a carefully controlled diet greatly reduces symptoms of the disease, which may include seizures, stunted growth, enlarged liver, and irritability when untreated. Untreated hypoglycemia is dangerous and can be fatal, but with lifelong treatment affected individuals can live into adulthood. It is not currently possible to predict how severe the disease will be based on the type of pathogenic variant inherited. GSD1a can affect people of any ethnicity, but it is more common in people of Ashkenazi Jewish descent.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Glycogen Storage Disease, Type IaG6PC1-5 [5] (*69)ARCaucasian1 in 17785%0.000851788756388416
Glycogen Storage Disease, Type IaG6PC1-5 [5] (*69)ARAsian1 in 192>95%0.000261711593823606
Glycogen Storage Disease, Type IaG6PC1-5 [5] (*69)ARAshkenazi Jewish1 in 71>95%0.000713775874375446
Glycogen Storage Disease, Type IaG6PC1-5 [5] (*69)ARWorldwide1 in 26192%0.000307597662257767