Glycogen storage disease
Glycogen storage disease | |
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Classification and external resources | |
Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
ICD-10 | E74.0 |
ICD-9-CM | 271.0 |
Patient UK | Glycogen storage disease |
MeSH | D006008 |
Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.[1]
GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.[2]
Contents
Prevalence
Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease.[3] In the United States, they are estimated to occur in 1 per 20,000-25,000 births.[4] A Dutch study estimated it to be 1 in 40,000.[5]
Types
![](/w/images/thumb/f/f1/Glycogen_storage_disease_in_liver_-_high_mag.jpg/300px-Glycogen_storage_disease_in_liver_-_high_mag.jpg)
There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (some previously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.)..
- GSD type VIII: In the past, considered a distinct condition.[6] Now classified with VI.[7] Has been described as X-linked recessive.[8]
- GSD type X: In the past, considered a distinct condition.[9][10] Now classified with VI.[7]
References
- ↑ "glycogen storage disease" at Dorland's Medical Dictionary
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 4.0 4.1 eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
- ↑ 5.0 5.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 7.0 7.1 Lua error in package.lua at line 80: module 'strict' not found.
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- ↑ Lua error in package.lua at line 80: module 'strict' not found.
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- ↑ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
- ↑ 12.0 12.1 12.2 [1]
- ↑ http://mcardlesdisease.org/
- ↑ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ 17.0 17.1 http://neuromuscular.wustl.edu/msys/glycogen.html#enolase