Epidemiology

GSD I has an estimated incidence of 1 in 100,000 births.[1]​ Approximately 80% of people with GSD have GSD 1a and 20% have GSD 1b.[1]​

GSD I affects sexes equally and is transmitted as an autosomal recessive trait.

For both subtypes, common pathogenic genetic variants have been recognized. Common G6PC1 variants include p.R83C (in people of European descent, Turkish people, and Ashkenazi Jewish people), p.Q347* (in European people), c.648G>T (in Chinese, Japanese, and Korean people), and c.380insTA (in Hispanic people).[4][5]​​​[6][7][8][9]​​ The overall carrier rate is about 1 in 150; however, GSD Ia is more common among those with Ashkenazi Jewish heritage in whom approximately 1 in 70 are carriers.[5]​ Common SLC37A4 (encoding the glucose-6-phosphate transporter, G6PT) variants include p.W118R, p.G339C and c.1042_1043delCT.[10]

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