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
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The Truth About Glycogen Storage Disease In Less Than 9 Minutes
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.
Resources
The Glycogen Storage Disease
As you already know GSD is a very rare disease. Those mutations are not at all common. Having two carriers meeting is also very unlikely. Added to that, even if two carriers have kids only one out of four will have GSD, two will be carriers and one will be fully healthy and not a carrier. Taking all that into account, it is estimated that only one baby out of 100.000 are born with GSD.
Glycogen Storage Diseases Are Rare but can be Genetic
Glycogen is normally stored in the liver and muscles. In several inherited diseases, glycogen cannot be reconverted to glucose, so it begins to accumulate.
Glycogen storage diseases: What are the differences?
Glycogen storage disease (GSD) is a rare genetic condition in which the body is not able to store or break down glycogen (a complex sugar) properly. GSDs can have different forms and subtypes, and by some accounts, there are more than 13 different types of GSD.
Glycogen Storage Disease Type 1 (von Gierke)
Type I glycogen storage disease (GSD I), also known as von Gierke’s disease, is the most common form of glycogen storage disease, accounting for 25% of all cases. It is an inherited disorder that affects the metabolism – the way the body breaks food down into energy.
Pompe Disease
Pompe disease is not only listed as an LSD, but also as one of the 15 presently known ‘glycogen storage disorders’ (GSDs), a group of metabolic disorders characterized by abnormalities in glycogen synthesis and breakdown.
Final Diagnosis -- Glycogen storage diseases
Glycogen storage diseases result from the inability to properly metabolize glycogen. Glycogen is a carbohydrate which is able to be stored and easily mobilized to maintain appropriate blood sugar levels during periods of fasting. This molecule is most abundant in the liver and skeletal muscle; this localization contributes to many of the observed clinical symptoms.
Life as a Parent of a Child With Glycogen Storage Disease
Every parent of a child with glycogenosis has a feeling of helplessness with the knowledge that they can’t influence how their child’s body will react to common childhood illnesses, how much hypoglycemia will trigger epilepsy in them, or whether in adulthood they will need a transplant, but we’re not completely defenseless.
My adventures to get the GSD1b empagliflozin off-label treatment with wonderful Dr Derks
My name is Nina Contreras D’Agosto. I am a half-Spanish half-Italian two-year old baby girl. I am also known as Nina, the Von Gierke’s Warrior, and I am unique. Not only because I live with Glycogen Storage Disease (GSD) type 1b – an inherited metabolic condition which affects one out of one million people – but also because in less than two years of life, and despite all my health-related challenges, I have been able to raise an army of thousands of “Warriors In Action” to promote awareness about my disease'
You Are Never Too Old: A Case of Glycogen Storage Disease Type 1 in an Adult
Glycogen storage disease (GSD) type 1a, also known as Von Gierke's disease, is caused by the absence of glucose-6-dephosphatase. This disease usually manifests in infancy with hypoglycemia, hepatomegaly, and poor growth. In rare cases, adults have been diagnosed with GSD type 1a usually by the presence of hepatocellular adenomas.
The Truth About Glycogen Storage Disease In Less Than 9 Minutes
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.
Nina the Von Gierke’s warrior!
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.
Cure GSD
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.
AGSD-UK
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.
Association for Glycogen Storage Disease
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.
StatPearls
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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