
08/19/2025
Some challenges are invisible but incredibly impactful.
Glycogen storage disease type 1a (GSD1A) is a rare genetic condition caused by a variant, or mutation, in the G6PC gene which helps break down the sugar molecule glucose 6-phosphate. Variants in the G6PC gene prevent the breakdown of this sugar molecule into glucose. The molecule is instead converted into glycogen and fat and stored in cells. Too much glycogen and fat in cells can be toxic and the buildup can lead to organ and tissue damage resulting in GSD1A.
Living with GSD1A requires a precise diet, often involving frequent feedings and uncooked cornstarch to maintain and improve blood levels of glucose.
At DDC Clinic, we offer genetic testing for GSD1A as a targeted test as well as part of our Genetic Awareness Panel (GAP).