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As a result, there are many types of GSD. Each type of GSD centers on a certain enzyme or set of enzymes involved in glycogen storage or break down. There are at least 13 types of glycogen storage disease. Doctors know more about some types than others. GSD mostly affects the liver and the muscles. Some types cause problems in other areas of the body as well. Types of GSD and the parts of the body they affect the most include:. A glycogen storage disorder occurs in about one in 20, to 25, babies.
Most of the severe forms of GSD are diagnosed in babies and children. Some of the milder types might not be found until the person is an adult. Symptoms vary based on the type of GSD. Some GSDs affect mostly the liver. These types except for GSD type 0 may cause the liver to become enlarged.
An enlarged liver is linked to low blood glucose levels because excess glycogen is stored in the liver instead of being released as glucose in the blood stream. Symptoms of low blood glucose, or hypoglycemia, include sweating, tremor, drowsiness, confusion, and, sometimes, seizures. Muscle weakness and muscle cramps are the most common symptoms of these types. GSDs occur when there is a problem with the gene that has the instructions for making the enzyme that is missing or not working right.
The gene is passed down from parents to children. In most cases, in order to have the GSD, a child must get a bad gene from both parents. Just because both parents have the gene does not always mean they will both pass it on to their children. Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. However, even though a great knowledge about the pathological role of AMPK in the brain has been reached, literature data is far from being convincing. AMPK does not show a unique behavior in neurodegenerative diseases, and both detrimental and protective roles have been hypothesized.
The presence of contradictory results indicates that further investigations are needed to better dissect the molecular mechanisms linking AMPK activity and the development of CNS diseases. A deep comprehension could provide useful information for designing novel and effective therapeutic strategies addressing a variety of neurological conditions.
Figure 4 AMPK is involved in the manifestation of neurological conditions. CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. J Clin Invest.
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