Glycogen Storage Diseases
One of the first things I read about GSD is that it is an autosomal recessive hereditary disease. What is that? – I wondered – I thought I could not understand it because I was a baby but then I realized that adults had no idea either - Nina Contreras D’Agosto
Metabolism is a biological process that breaks down the food we eat and provides energy to keep us alive. In some cases, different key stakeholders in this process fail to fulfill their duty.
There is a spectrum of conditions that fall under the umbrella of Glycogen Storage Disease (GSD), which cause such trouble. Since it did not have any popular awareness challenge go viral (bring back the ice buckets!) and fortunately is a rare condition, it hasn’t had too much light thrown on it.
According to the reports, the incidence rates appear to be 1 in 100,000. As the symptoms set out at an early age, Glycogen Storage Disease appears to affect the little ones more than the adults.
Ever wondered how going off carbs for a couple of days almost always shows instant results? Thank all the glycogen stored in your body. But some people have trouble storing this entity as we do, disrupting their chance to live a typical life. Let’s peak into what actually happens with Glycogen Storage Disease.
I have created this website because in December 2017 I got very sick and in April 2018 I was diagnosed with Glycogen Storage Disease type 1b, a very rare, serious and cronic condition which degenerates certain body organs.
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.
We provide support and help for individuals and families affected by an ultra-rare condition – Glycogen Storage Disease (GSD). It primarily affects the liver and/or the muscles including the heart.
Diagnosis of a rare genetic disease can be a very lonely experience for the patients and their families, and in some cases, for their doctors also. These pages are intended to help reduce that sense of isolation by providing not just information, but also a point of contact.
Glycogen storage diseases (GSDs) are inherited inborn errors of carbohydrate metabolism. Clinical onset can range from neonatal life to adulthood. In general, they occur due to a lack of specific enzymes involved in the breakdown of glycogen and result in an abnormal buildup of glycogen in the liver or skeletal muscles. The inability to mobilize glucose from glycogen results in hypoglycemia and exercise-induced weakness in patients and leads to long-term complications.
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