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| Debrancher Enzyme Deficiency ： ウィキペディア英語版 |
Glycogen storage disease type III
Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes.
It is also known as Cori's disease in honor of the 1947 Nobel laureates Carl Cori and Gerty Cori. Other names include Forbes disease in honor of clinician Gilbert Burnett Forbes (1915-2003), an American Physician who further described the features of the disorder, or limit dextrinosis.〔(eMedicine The Continually Updated Clinical Reference )〕
Glycogen is a molecule the body uses to store carbohydrate energy. Symptoms of GSD-III are caused by a deficiency of the enzyme amylo-1,6 glucosidase, or debrancher enzyme. This causes excess amounts of an abnormal glycogen to be deposited in the liver, muscles and, in some cases, the heart.
==Genetic prevalence==
GSD III is inherited in an autosomal recessive pattern, and occurs in about 1 of every 100,000 live births.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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