WHAT IS GSD1?
Glycogen Storage Disease Type 1 (GSD1) is a rare, genetic metabolic disorder that occurs when a specific enzyme is either missing or not functioning properly. This enzyme is responsible for maintaining the body's blood glucose (sugar) level. Glucose fuels every cell in our body, including brain activity. People affected with GSD1 cannot convert stored glycogen into glucose, and therefore need a constant external source of glucose in order to survive. Hypoglycemia in patients with GSD1 can be life threatening. GSD1 is the most common form Glycogen Storage Disease, affecting 1 in every 100,000 births. READ MORE
The Children's Fund for Glycogen Storage Disease Research is a public not-for-profit 501(c)(3) foundation that aims to make a difference in the lives of children and their families affected by GSD1.
As little as 40 years ago, a child born with GSD1 had very little chance of survival beyond one or two years. Today, thanks to increased awareness, medical advances and generous supporters, children are thriving and a cure is on the horizon.
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News & Events
Seeking GSD1a (R83C) PatientsRTI Health Solutions is hosting a series of interviews for GSD1a patients with the R83C mutation. The information obtained may be used by a pharmaceutical company developing a new treatment for GSD1a. Interviews are approximately 1 hour and participants will be paid $100 for their time. If interested, please click the image above for more information.
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" ... because every child deserves to be healthy."