Glycogen storage disease: Difference between revisions
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* GSD type X: In the past, considered a distinct condition.<ref name="pmid6940112">{{cite journal |author=Warren MF, Hamilton PB |title=Glycogen storage disease type X caused by ochratoxin A in broiler chickens |journal=Poult. Sci. |volume=60 |issue=1 |pages=120–3 |year=1981 |month=January |pmid=6940112 |doi= |url=}}</ref><ref name="pmid760630">{{cite journal |author=Huff WE, Doerr JA, Hamilton PB |title=Decreased glycogen mobilization during ochratoxicosis in broiler chickens |journal=Appl. Environ. Microbiol. |volume=37 |issue=1 |pages=122–6 |year=1979 |month=January |pmid=760630 |pmc=243410 |doi= |url=http://aem.asm.org/cgi/pmidlookup?view=long&pmid=760630}}</ref> Now classified with VI.<ref name="urleMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto">{{cite web |url=http://www.emedicine.com/ped/TOPIC2564.HTM |title=eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto |format= |work= |accessdate=}}</ref> | * GSD type X: In the past, considered a distinct condition.<ref name="pmid6940112">{{cite journal |author=Warren MF, Hamilton PB |title=Glycogen storage disease type X caused by ochratoxin A in broiler chickens |journal=Poult. Sci. |volume=60 |issue=1 |pages=120–3 |year=1981 |month=January |pmid=6940112 |doi= |url=}}</ref><ref name="pmid760630">{{cite journal |author=Huff WE, Doerr JA, Hamilton PB |title=Decreased glycogen mobilization during ochratoxicosis in broiler chickens |journal=Appl. Environ. Microbiol. |volume=37 |issue=1 |pages=122–6 |year=1979 |month=January |pmid=760630 |pmc=243410 |doi= |url=http://aem.asm.org/cgi/pmidlookup?view=long&pmid=760630}}</ref> Now classified with VI.<ref name="urleMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto">{{cite web |url=http://www.emedicine.com/ped/TOPIC2564.HTM |title=eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto |format= |work= |accessdate=}}</ref> | ||
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==Heart & Liver in Glycogen Storage Disease== | ==Heart & Liver in Glycogen Storage Disease== | ||
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{{Metabolic pathology}} | {{Metabolic pathology}} | ||
Revision as of 18:03, 13 August 2012
| Glycogen storage disease | |
 | |
|---|---|
| Glycogen | |
| ICD-10 | E74.0 |
| ICD-9 | 271.0 |
| MeSH | D006008 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Types
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.[1] Now classified with VI.[2] Has been described as X-linked recessive.[3]
| Number | Enzyme deficiency | Eponym |
| GSD type I | glucose-6-phosphatase | von Gierke's disease |
| GSD type II | acid maltase | Pompe's disease |
| GSD type III | glycogen debrancher | Cori's disease or Forbe's disease |
| GSD type IV | glycogen branching enzyme | Andersen disease |
| GSD type V | muscle glycogen phosphorylase | McArdle disease |
| GSD type VI | liver glycogen phosphorylase | Hers' disease |
| GSD type VII | muscle phosphofructokinase | Tarui's disease |
| GSD type IX | phosphorylase kinase | - |
| GSD type XI | glucose transporter | Fanconi-Bickel disease |
| GSD type 0 | glycogen synthase | - |
Gross Pathological Findings
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology
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Pompe's Disease, Glycogen Storage Disease Type II. Child in crib
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Pompe's Disease, Glycogen Storage Disease Type II
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Pompe's Disease, Glycogen Storage Disease Type II
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Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
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Pompe's Disease, Glycogen Storage Disease Type II, 9 years old patient
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Pompe's Disease, Glycogen Storage Disease Type II
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Pompe's Disease, Glycogen Storage Disease Type II
Microscopic Pathological Findings
Images shown below are courtesy of Professor Peter Anderson DVM PhD and published with permission. © PEIR, University of Alabama at Birmingham, Department of Pathology
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Muscle: Glycogen Storage Disease
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Muscle: Glycogen Storage Disease
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Nerve: Glycogen Storage Disease Macrophages; Longitudinal Section of Peripheral Nerve
Heart & Liver in Glycogen Storage Disease
{{#ev:youtube|inSkXkNK_dE}}
References
- ↑ Ludwig M, Wolfson S, Rennert O (1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–3. doi:10.1136/adc.47.255.830. PMC 1648209. PMID 4508182. Unknown parameter
|month=ignored (help) - ↑ 2.0 2.1 "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto".
- ↑ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
- ↑ Warren MF, Hamilton PB (1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3. PMID 6940112. Unknown parameter
|month=ignored (help) - ↑ Huff WE, Doerr JA, Hamilton PB (1979). "Decreased glycogen mobilization during ochratoxicosis in broiler chickens". Appl. Environ. Microbiol. 37 (1): 122–6. PMC 243410. PMID 760630. Unknown parameter
|month=ignored (help)
Template:Metabolic pathology de:Glykogenspeicherkrankheit it:Glicogenosi