Glycogen Storage Disease - Wikipedia, The Free Encyclopedia
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12/25/2015 Glycogen storage disease Wikipedia, the free encyclopedia
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Glycogen storage disease
Glycogen
Classification and external resources
Specialty endocrinology
ICD10 E74.0(http://apps.who.int/classifications/icd10/browse/2015/en#/E74.0)
ICD9CM
271.0 (http://www.icd9data.com/getICD9Code.ashx?icd9=271.0)
MeSH D006008 (https://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?field=uid&term=D006008)
Micrograph of glycogen storagedisease with histologic featuresconsistent with Cori disease. Liverbiopsy. H&E stain.
Glycogen storage diseaseFrom Wikipedia, the free encyclopedia
Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is theresult of defects in the processing of glycogen synthesis or breakdown withinmuscles, liver, and other cell types.[1]
GSD has two classes of cause: genetic and acquired. Genetic GSD is causedby any inborn error of metabolism (genetically defective enzymes) involvedin these processes. In livestock, acquired GSD is caused by intoxication withthe alkaloid castanospermine.[2]
Contents
1 Prevalence
2 Types
3 References
4 External links
Prevalence
Overall, according to a study in British Columbia, approximately 2.3children per 100 000 births (1 in 43,000) have some form of glycogenstorage disease.[3] In the United States, they are estimated to occur in 1 per20,00025,000 births.[4] A Dutch study estimated it to be 1 in 40,000.[5]
Types
There are eleven (11) distinct diseases that are commonly considered to be glycogen storage diseases (somepreviously thought to be distinct have been reclassified). (Although glycogen synthase deficiency does notresult in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it isanother 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 beendescribed as Xlinked recessive.[8]
GSD type X: In the past, considered a distinct condition.[9][10] Now classified with VI.[7]
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Number Enzyme deficiency Eponym Incidence Hypo glycemia?
Hepato megaly?
Hyperlip idemia?
Musclesymptoms
Development/prognosis
Othersymptoms
GSDtype I
glucose6phosphatase
vonGierke'sdisease
1 in 50,000[4]100,000[11] births
Yes Yes Yes None Growth failureLacticacidosis,hyperuricemia
GSDtype II
acid alphaglucosidase
Pompe'sdisease
1 in 40,000births[5]50,000 [12] No Yes No Muscle
weakness
*Death by age~2 years(infantilevariant)
heart failure
GSDtype III
glycogendebranching enzyme
Cori'sdisease orForbes'disease
1 in 100,000 births Yes Yes Yes Myopathy
GSDtype IV
glycogen branchingenzyme
Andersendisease 1 to 500,000 [12] No
Yes, also cirrhosis
No None
Failure tothrive, deathat age ~5years
GSDtype V
muscle glycogenphosphorylase
McArdledisease
1 in100,000[13]500,000[12]
No No NoExerciseinduced cramps,Rhabdomyolysis
Renal failurebymyoglobinuria,second windphenomenon
GSDtype VI
liver glycogenphosphorylase
Hers'disease
1 in 65,000 85,000births[14]
Yes Yes Yes [15] None
GSDtype VII
musclephosphofructokinase
Tarui'sdisease 1 in 1,000,000 [16] No No No
Exerciseinduced musclecramps andweakness
growthretardation
Haemolyticanaemia
GSDtype IX
phosphorylasekinase, PHKA2 Yes Yes Yes None
Delayedmotordevelopment,Growthretardation
GSDtype XI
glucose transporter,GLUT2
FanconiBickelsyndrome
Yes Yes No None
GSDtype XII Aldolase A
Red cellaldolasedeficiency
? ? ?Exerciseintolerance,cramps
GSDtypeXIII
βenolase ? ? ?Exerciseintolerance,cramps
Increasingintensity ofmyalgias overdecades[17]
Serum CK:Episodicelevations;Reduced withrest[17]
GSDtype 0 glycogen synthase Yes No No
Occasionalmusclecramping
Growth failurein some cases
References1. "glycogen storage disease (http://web.archive.org/web/20090616022448/http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?
pg=/ppdocs/us/common/dorlands/dorland/nine/100012620.htm)" at Dorland's Medical Dictionary2. Stegelmeier BL, Molyneux RJ, Elbein AD, James LF (May 1995). "The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in
rats". Veterinary Pathology 32 (3): 289–98. doi:10.1177/030098589503200311. PMID 7604496.3. Applegarth DA, Toone JR, Lowry RB (January 2000). "Incidence of inborn errors of metabolism in British Columbia, 19691996". Pediatrics 105 (1): e10.
doi:10.1542/peds.105.1.e10. PMID 10617747.4. eMedicine Specialties > GlycogenStorage Disease Type I (http://emedicine.medscape.com/article/949937overview) Author: Karl S Roth. Updated: Aug 31,
20095. Ausems MG, Verbiest J, Hermans MP, et al. (September 1999). "Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis
and genetic counselling". Eur. J. Hum. Genet. 7 (6): 713–6. doi:10.1038/sj.ejhg.5200367. PMID 10482961.6. Ludwig M, Wolfson S, Rennert O (October 1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–3. doi:10.1136/adc.47.255.830.
PMC 1648209. PMID 4508182.7. "eMedicine GlycogenStorage Disease Type VI : Article by Lynne IerardiCurto".8. "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
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9. Warren MF, Hamilton PB (January 1981). "Glycogen storage disease type X caused by ochratoxin A in broiler chickens". Poult. Sci. 60 (1): 120–3.doi:10.3382/ps.0600120. PMID 6940112.
10. Huff WE, Doerr JA, Hamilton PB (January 1979). "Decreased glycogen mobilization during ochratoxicosis in broiler chickens". Appl. Environ. Microbiol. 37(1): 122–6. PMC 243410. PMID 760630.
11. The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD (http://www.agsdus.org/html/typeivongierke.htm) This pagewas created in October 2006.
12. [1] (http://ceaccp.oxfordjournals.org/content/early/2010/12/22/bjaceaccp.mkq055/T2.expansion.html)13. http://mcardlesdisease.org/14. eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > GlycogenStorage Disease Type VI
(http://emedicine.medscape.com/article/950587overview) Author: Lynne IerardiCurto, MD, PhD. Updated: Aug 4, 200815. Goldman, Lee; Schafer, Andrew (2012). Goldman's Cecil medicine (24th ed.). Philadelphia: Elsevier/Saunders. p. 1356. ISBN 9781437716047.16. "Rare Disease Database". Orpha.net. Retrieved 20150920.17. http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
External links
Asociación Española de Enfermos de Glucogenosis (http://glucogenosis.org/portal1/default.asp)
Retrieved from "https://en.wikipedia.org/w/index.php?title=Glycogen_storage_disease&oldid=692332569"
Categories: Inborn errors of carbohydrate metabolism Hepatology Rare diseases
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