Glycogen storage disease type III
|Glycogen storage disease type III|
|Classification and external resources|
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.
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.
GSD III is inherited in an autosomal recessive pattern, and occurs in about 1 of every 100,000 live births.
Clinical manifestations are divided into four classes:
- GSD IIIa, which clinically includes muscle and liver involvement
- GSD IIIb, which clinically has liver involvement but no muscle involvement
- GSD IIIc and GSD IIId, which are rarer phenotypes with altered penetrance
The disease typically presents during infancy with hypoglycemia and failure to thrive. Clinical examination usually reveals hepatomegaly. Muscular disease, including hypotonia and cardiomyopathy, usually occurs later.
- eMedicine The Continually Updated Clinical Reference
- Lucchiari S, Fogh I, Prelle A, et al. (2002). "Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area". Am. J. Med. Genet. 109 (3): 183–90. doi:10.1002/ajmg.10347. PMID 11977176.