Glycogen storage disease type III
| Glycogen storage disease type III | |
|---|---|
| Other names | Cori Disease, Debrancher Deficiency, Forbes Disease[1] |
| Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain. | |
| Specialty | Endocrinology |
| Symptoms | Hypotonia[2] |
| Causes | AGL gene mutation[3] |
| Diagnostic method | Biopsy, Elevated transaminases[4] |
| Treatment | Currently no cure, Diet regime[4] |
Glycogen storage disease type III (GSD III) is an autosomal recessive metabolic disorder and inborn error of metabolism (specifically of carbohydrates) characterized by a deficiency in glycogen debranching enzymes.[3] 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, due to the limit dextrin-like structures in cytosol.[2] Limit dextrin is the remaining polymer produced after hydrolysis of glycogen. Without glycogen debranching enzymes to further convert these branched glycogen polymers to glucose, limit dextrinosis abnormally accumulates in the cytoplasm.[5]
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 abnormal glycogen to be deposited in the liver, muscles, and, in some cases, the heart.
- ^ Cite error: The named reference
type3was invoked but never defined (see the help page). - ^ a b Cite error: The named reference
genwas invoked but never defined (see the help page). - ^ a b Reference, Genetics Home. "glycogen storage disease type III". Genetics Home Reference. Archived from the original on 2019-04-23. Retrieved 2016-08-07.
- ^ a b "Glycogen storage disease type 3 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 June 2020. Retrieved 2 January 2018.
- ^ J. G. Salway (2012). Medical Biochemistry at a Glance. John Wiley & Sons. p. 60. ISBN 9780470654514. Archived from the original on 2023-10-29. Retrieved 2020-11-11.