Glycogen storage disease: Difference between revisions
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'''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. | '''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== | == 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.) | 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.<ref name="pmid4508182">{{cite journal |author=Ludwig M, Wolfson S, Rennert O |title=Glycogen storage disease, type 8 |journal=Arch. Dis. Child. |volume=47 |issue=255 |pages=830–3 |year=1972 |month=October |pmid=4508182 |pmc=1648209 |doi= 10.1136/adc.47.255.830|url=}}</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> Has been described as [[X-linked recessive]].<ref name="urlDefinition: glycogen storage disease type VIII from Online Medical Dictionary">{{cite web |url=http://cancerweb.ncl.ac.uk/cgi-bin/omd?glycogen+storage+disease+type+VIII |title=Definition: glycogen storage disease type VIII from Online Medical Dictionary |format= |work= |accessdate=}}</ref> | * GSD type VIII: In the past, considered a distinct condition.<ref name="pmid4508182">{{cite journal |author=Ludwig M, Wolfson S, Rennert O |title=Glycogen storage disease, type 8 |journal=Arch. Dis. Child. |volume=47 |issue=255 |pages=830–3 |year=1972 |month=October |pmid=4508182 |pmc=1648209 |doi= 10.1136/adc.47.255.830|url=}}</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> Has been described as [[X-linked recessive]].<ref name="urlDefinition: glycogen storage disease type VIII from Online Medical Dictionary">{{cite web |url=http://cancerweb.ncl.ac.uk/cgi-bin/omd?glycogen+storage+disease+type+VIII |title=Definition: glycogen storage disease type VIII from Online Medical Dictionary |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 | * 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> | ||
{|class="wikitable" class="sortable wikitable" | |||
{| class="wikitable" class="sortable wikitable" | | '''Number''' || '''Enzyme deficiency''' || '''Eponym''' || '''Incidence''' || '''[[Hypoglycemia|Hypo-<br>glycemia]]?''' || '''[[Hepatomegaly|Hepato-<br>megaly]]?''' || '''[[Hyperlipidemia|Hyperlip-<br>idemia]]?''' || '''Muscle symptoms''' || '''Development/ prognosis''' || '''Other symptoms''' | ||
| '''Number''' || '''Enzyme deficiency''' || '''Eponym''' || '''Incidence''' || '''[[Hypoglycemia|Hypo-<br>glycemia]]?''' || '''[[Hepatomegaly|Hepato-<br>megaly]]?''' || '''[[Hyperlipidemia|Hyperlip-<br>idemia]]?''' | |- | ||
| [[Glycogen storage disease type I|GSD type I]] || [[glucose-6-phosphatase]] || [[von Gierke's disease]] || 1 in 50,000<ref name=Roth/>- 100,000<ref>[http://www.agsdus.org/html/typeivongierke.htm The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD] This page was created in October 2006.</ref> births || Yes || Yes || Yes || None || [[Growth failure]] || [[Lactic acidosis]], [[hyperuricemia]] | |||
|- | |||
| [[Glycogen storage disease type II|GSD type II]] || [[acid maltase]] || [[Pompe's disease]] || 1 in 60,000- 140,000 births<ref name=Ausems/> || No || Yes || No || [[Muscle weakness]] || *Death by age ~2 years (infantile variant) || [[heart failure]] | |||
|- | |||
| [[Glycogen storage disease type III|GSD type III]] || [[glycogen debrancher]] || [[Cori's disease]] or [[Forbes' disease]] || 1 in 100,000 births || Yes || Yes || Yes || [[Myopathy]] || || | |||
|- | |||
| [[Glycogen storage disease type IV|GSD type IV]] || [[glycogen branching enzyme]] || [[Andersen disease]] || || No || Yes,<br> also <br> [[cirrhosis]] || No || None || [[Failure to thrive]], death at age ~5 years || | |||
|- | |- | ||
| [[Glycogen storage disease type V|GSD type V]] || [[muscle glycogen phosphorylase]] || [[McArdle disease]] || 1 in 100,000<ref>http://mcardlesdisease.org/</ref> || No || No || No ||Exercise-induced cramps, [[Rhabdomyolysis]] || || [[Renal failure]] by [[myoglobinuria]] | | [[Glycogen storage disease type V|GSD type V]] || [[muscle glycogen phosphorylase]] || [[McArdle disease]] || 1 in 100,000<ref>http://mcardlesdisease.org/</ref> || No || No || No ||Exercise-induced cramps, [[Rhabdomyolysis]] || || [[Renal failure]] by [[myoglobinuria]] | ||
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| [[Glycogen storage disease type XII|GSD type XII]] || [[Aldolase A]] || [[Red cell aldolase deficiency]] || || ? || ? || ? || [[Exercise intolerance]], [[cramps]] || || | | [[Glycogen storage disease type XII|GSD type XII]] || [[Aldolase A]] || [[Red cell aldolase deficiency]] || || ? || ? || ? || [[Exercise intolerance]], [[cramps]] || || | ||
|- | |- | ||
| [[Glycogen storage disease type XIII|GSD type XIII]] || [[enolase|β-enolase]] || - || || ? || ? || ? || [[Exercise intolerance]], [[cramps]] || Increasing intensity of [[myalgia|myalgias]] over decades<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase">http://neuromuscular.wustl.edu/msys/glycogen.html#enolase</ref> || [[ | | [[Glycogen storage disease type XIII|GSD type XIII]] || [[enolase|β-enolase]] || - || || ? || ? || ? || [[Exercise intolerance]], [[cramps]] || Increasing intensity of [[myalgia|myalgias]] over decades<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase">http://neuromuscular.wustl.edu/msys/glycogen.html#enolase</ref> || [[Creatine kinase|Serum CK]]: Episodic elevations; Reduced with rest<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase" /> || | ||
|- | |- | ||
| [[Glycogen storage disease type 0|GSD type 0]] || [[glycogen synthase]] || - || || Yes || No || No || Occasional [[muscle cramp]]ing || || | | [[Glycogen storage disease type 0|GSD type 0]] || [[glycogen synthase]] || - || || Yes || No || No || Occasional [[muscle cramp]]ing || || |
Revision as of 18:13, 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]
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
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) - ↑
- ↑ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
- ↑
- ↑ 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
- ↑ 11.0 11.1 http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
Template:Metabolic pathology de:Glykogenspeicherkrankheit it:Glicogenosi