Topic: Glycogen Storage Disease
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What is glycogen storage disease?
n. See glycogenosis. Read More »
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What are glycogen storage diseases?
Definition Glycogen serves as the primary fuel reserve for the body's energy needs. Glycogen storage diseases, also known as glycogenoses, are genetically linked metabolic disorders that involve the enzymes regulating glycogen metabolism. S... Read More »
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What are the treatments for glycogen storage diseases?
Some GSD types cannot be treated, while others are relatively easy to control through symptom management. In more severe cases, receiving an organ transplant is the only option. In the most severe cases, there are no available treatments an... Read More »
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Glycogen Storage Disease
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People with well-managed, treatable types of GSD can lead long, relatively normal lives. This goal is accomplished with the milder types of GSD, such as Types VI, IX, and X. As the GSD type becomes more severe, a greater level of vigilance ...
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Because GSD is an inherited condition, it is not preventable. If both parents carry the defective gene, there is a one-in-four chance that their offspring will inherit the disorder. Other children may be carriers or they may miss inheriting...
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GSD symptoms depend on the enzyme affected. Since glycogen storage occurs mainly in muscles and the liver, those sites display the most prominent symptoms. There are at least 10 different types of GSDs which are classified according to the ...
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Diagnosis usually occurs in infancy or childhood, although some milder types of GSD go unnoticed well into adulthood and old age. It is even conceivable that some of the milder GSDs are never diagnosed. The four major symptoms that typicall...
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A definite diagnosis can be made by testing a biopsy sample for glycogen concentration, and by assaying the sample for enzyme activity. Distinguishing symptoms of glycogen storage diseases are type-specific. See the exposition on the types ...
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Source: http://www.querycat.com/question/6bfe5644a1d505ad7fc23424ae4d6468
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, es...
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Source: http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i