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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".

12/25/2015 Glycogen storage disease ­ Wikipedia, the free encyclopedia

https://en.wikipedia.org/wiki/Glycogen_storage_disease 3/3

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)

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Categories: Inborn errors of carbohydrate metabolism Hepatology Rare diseases

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