Glycogen storage disease type IV: Difference between revisions
No edit summary |
No edit summary |
||
Line 1: | Line 1: | ||
__NOTOC__ | |||
{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Glycogen storage disease type IV | | Name = Glycogen storage disease type IV | | ||
Line 9: | Line 10: | ||
OMIM = 232500 | | OMIM = 232500 | | ||
MedlinePlus = | | MedlinePlus = | | ||
MeshName = Glycogen+Storage+Disease+Type+IV | | MeshName = Glycogen+Storage+Disease+Type+IV | | ||
MeshNumber = C16.320.565.202.449.540 | | MeshNumber = C16.320.565.202.449.540 | | ||
Line 18: | Line 16: | ||
{{CMG}} | {{CMG}} | ||
{{SK}} Glycogenosis type IV; Andersen's disease; glycogen branching enzyme deficiency (GBED); polyglucosan body disease; amylopectinosis | |||
' | Please help WikiDoc by adding more content here. It's easy! Click [[Help:How_to_Edit_a_Page|here]] to learn about editing. | ||
==Overview== | ==Overview== | ||
''' Glycogen storage disease type IV''' is a very rare [[hereditary]] [[metabolic disorder]]. | ''' Glycogen storage disease type IV''' is a very rare [[hereditary]] [[metabolic disorder]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
It is a result of the absence of the [[glycogen branching enzyme]] amylo-1,4-1,6 transglucosidase, which is critical in the production of [[glycogen]]. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules (known as [[amylopectin]]) have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the [[heart]] and [[liver]]. | It is a result of the absence of the [[glycogen branching enzyme]] [[amylo-1,4-1,6 transglucosidase]], which is critical in the production of [[glycogen]]. This leads to very long unbranched glucose chains being stored in [[glycogen]]. The long unbranched molecules (known as [[amylopectin]]) have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the [[heart]] and [[liver]]. | ||
==Complications and Prognosis== | |||
== | |||
The end result is liver failure and eventual death occurring in the first year of life. | The end result is liver failure and eventual death occurring in the first year of life. | ||
==Related Chapters== | |||
*[[Glycogen storage disease type I]] | |||
*[[Glycogen storage disease type II]] | |||
*[[Glycogen storage disease type III]] | |||
==References== | |||
{{reflist|2}} | |||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
[[Category:Needs content]] | |||
[[pl:Choroba Andersen]] | [[pl:Choroba Andersen]] | ||
[[ru:Болезнь Андерсена]] | [[ru:Болезнь Андерсена]] |
Revision as of 02:49, 20 September 2012
Glycogen storage disease type IV | ||
Glycogen | ||
ICD-10 | E74.0 | |
ICD-9 | 271.0 | |
OMIM | 232500 | |
DiseasesDB | 5303 | |
MeSH | C16.320.565.202.449.540 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Glycogenosis type IV; Andersen's disease; glycogen branching enzyme deficiency (GBED); polyglucosan body disease; amylopectinosis
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
Overview
Glycogen storage disease type IV is a very rare hereditary metabolic disorder.
Pathophysiology
It is a result of the absence of the glycogen branching enzyme amylo-1,4-1,6 transglucosidase, which is critical in the production of glycogen. This leads to very long unbranched glucose chains being stored in glycogen. The long unbranched molecules (known as amylopectin) have a low solubility which leads to glycogen precipitation in the liver. These deposits subsequently build up in the body tissue, especially the heart and liver.
Complications and Prognosis
The end result is liver failure and eventual death occurring in the first year of life.