What is Type 1 glycogen storage disease?
Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI) is characterized by accumulation of excessive glycogen and fat in the liver and kidneys that can result in an enlarged liver and kidneys and growth retardation leading to short stature.
What are the glycogen storage disease?
Glycogen storage disease (GSD) is a rare condition that changes the way the body uses and stores glycogen, a form of sugar or glucose. Glycogen is a main source of energy for the body. Glycogen is stored in the liver. When the body needs more energy, certain proteins called enzymes break down glycogen into glucose.
Can you live with glycogen storage disease?
Q: What is the life expectancy of a person with glycogen storage disease? A: The life expectancy of persons with glucose-6-phosphatase deficiency, debrancher deficiency, and with liver phosphorylase deficiency is probably somewhat reduced although many do quite well.
What are the characteristics of glycogen storage disease GSD type I?
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance.
What are some symptoms of von Gierke’s disease?
Symptoms
- Constant hunger and need to eat often.
- Easy bruising and nosebleeds.
- Fatigue.
- Irritability.
- Puffy cheeks, thin chest and limbs, and swollen belly.
What causes Pompe’s disease?
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
How is Cori disease treated?
Treatment typically includes a high- protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood.
Is GSD fatal?
Because they affect so many organ systems, GSD Type II (Pompe’s disease) and GSD Type IV (Andersen’s disease) are very hard to treat and can be fatal. Research into enzyme replacement therapy and gene therapy is promising, which may improve the outlook for the future.
Is glycogen storage disease a disability?
If you have been diagnosed with Glycogen Storage Disease Type II and are suffering from symptoms that make it imposable to maintain full time employment, you should file an application for Social Security Disability benefits with the Social Security Administration.
How is Von Gierke Disease treated?
The goal of treatment is to avoid low blood sugar. Eat frequently during the day, especially foods that contain carbohydrates (starches). Older children and adults may take cornstarch by mouth to increase their carbohydrate intake.
What is the treatment of Von Gierke Disease?
The primary goal of treatment of Von Gierke Disease is to avoid low blood sugar. Diet is the mainstay of treatment and requires close monitoring and adjustment by a highly specialized nutritionist. Excessive carbohydrates and calories are to be avoided while adequate calories and protein for growth are ensured.
How is glycogen storage disease diagnosed?
Blood tests. These may include testing your blood sugar levels,which may be low,and also blood tests to check your kidney function and liver function.
What are the symptoms of glycogen storage disease?
Low blood sugar
What does glycogen storage disease type I mean?
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.
Is diabetes considered a glycogen storage disease?
No they are not the same, Diabetes is a disease where the body fails to produce insulin or has a problem processing it as in type 2. Glycogen Storage Diseases are considered inherited metabolic disorders. A metabolic disorder is a disease that disrupts metabolism.