Glycogen storage disease
160851
211736211
2008-05-11T21:38:46Z
Aunt Entropy
6417583
/* Types */
{{Infobox_Disease |
Name = {{PAGENAME}} |
Image = Glycogen.png |
Caption = [[Glycogen]] |
DiseasesDB = |
ICD10 = {{ICD10|E|74|0|e|70}} |
ICD9 = {{ICD9|271.0}} |
ICDO = |
OMIM = |
MedlinePlus = |
eMedicineSubj = |
eMedicineTopic = |
MeshID = D006008 |
}}
'''Glycogen storage disease''' (synonyms: '''glycogenosis''', '''dextrinosis''') is any one of several [[inborn error of metabolism|inborn errors of metabolism]] that result from [[enzyme]] defects that affect the processing of [[glycogen]] synthesis or breakdown within [[muscle]]s, [[liver]], and other cell types.
==Types==
There are nine diseases that are commonly considered to be glycogen storage diseases. (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.)
{| class="wikitable"
| '''Number''' || '''Enzyme deficiency''' || '''Eponym'''
|-
| [[Glycogen storage disease type I|GSD type I]] || [[glucose-6-phosphatase]] || [[von Gierke's disease]]
|-
| [[Glycogen storage disease type II|GSD type II]] || [[acid maltase]] || [[Pompe's disease]]
|-
| [[Glycogen storage disease type III|GSD type III]] || [[glycogen debrancher]] || [[Cori's disease]] or [[Forbe's disease]]
|-
| [[Glycogen storage disease type IV|GSD type IV]] || [[glycogen branching enzyme]] || [[Andersen disease]]
|-
| [[Glycogen storage disease type V|GSD type V]] || [[muscle glycogen phosphorylase]] || [[McArdle disease]]
|-
| [[Glycogen storage disease type VI|GSD type VI]] || [[liver glycogen phosphorylase]] || [[Hers' disease]]
|-
| [[Glycogen storage disease type VII|GSD type VII]] || [[muscle phosphofructokinase]] || [[Tarui's disease]]
|-
| [[Glycogen storage disease type IX|GSD type IX]] || [[phosphorylase kinase]] || -
|-
| [[Glycogen storage disease type XI|GSD type XI]] || [[glucose transporter]] || [[Fanconi-Bickel syndrome]]
|-
| [[Glycogen storage disease type 0|GSD type 0]] || [[glycogen synthase]] || -
|}
{{Carbohydrate metabolic pathology}}
[[Category:Inborn errors of metabolism]]
[[Category:Hepatology]]
[[de:Glykogenspeicherkrankheit]]
[[es:Glucogenosis]]
[[fr:Maladie génétique du métabolisme des glucides]]
[[it:Glicogenosi]]
[[ja:糖原病]]
[[pl:Choroby spichrzeniowe glikogenu]]
[[pt:Glicogenose]]
[[ru:Гликогенозы]]