What are glycogen storage disorders?

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.

What are the symptoms of glycogen storage disease type 1?

What are the symptoms of GSD I? Children born with GSD I typically exhibit growth failure, chronic hunger, fatigue, irritability, an enlarged liver, and a swollen abdomen. Blood tests may indicate low blood sugar concentration and higher than normal levels of lipids and uric acid.

What is glycogen storage?

The body uses as much glucose as it needs to function and stores the rest to use later. Before it can be stored, the body must combine the simple glucose units into a new, complex sugar called glycogen. The glycogen is then stored in the liver and muscle cells.

What is glycogen storage disease type 8?

Definition. An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. [

What is glycogen storage disease type 2?

Glycogen-storage disease type II (GSD II), also known as Pompe disease, is part of a group of metabolic diseases called lysosomal storage disorders (LSDs). GSD II is an autosomal-recessive disorder that results from deficiency of acid alpha-glucosidase (also known as acid maltase), a lysosomal hydrolase.

What is glycogen storage disease type 7?

People with glycogen storage disease type 7 (GSD7) usually have symptoms during childhood, but some people may have symptoms beginning as infants or later as adults. GSD7 symptoms are. Muscle weakness, pain, cramps and stiffness.

How common is glycogen storage disease type 1a?

How Common is Glycogen Storage Disease Type 1a? Roughly 1 in every 20,000 to 25,000 babies in the U.S. and Europe is born with some form of Glycogen Storage Disease.

What is the most common glycogen storage disease?

Types of Glycogen Storage Disease Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90\% of all glycogen storage disease cases. Type II (Pompe’s disease, acid maltase deficiency) Type III (Cori’s disease)

How does glycogen storage disease cause cardiomyopathy?

Cardiac involvement is a well-known feature in several glycogen storage diseases (GSDs) such as types II, III, IV, and IX and PRKAG2, a gene that encodes the regulatory γ2-subunit of AMP-activated protein kinase (AMPK), which, when mutated, causes glycogen storage cardiomyopathy.

Is McArdle disease fatal?

The disease can lead to dark urine. Severe, uncontrolled McArdle disease can cause life-threatening kidney problems.

What is Anderson disease?

Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.

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.