Glycogen Storage Disease - Wikipedia, The Free Encyclopedia
Content
12/25/2015
Glycogen storage disease Wikipedia, the free encyclopedia
Glycogen storage disease From Wikipedia, the free encyclopedia
Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.[1]
Glycogen storage disease
GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.[2]
Contents 1 Prevalence 2 Types 3 References
Glycogen Classification and external resources
4 External links
Specialty endocrinology
Prevalence Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease.[3] In the United States, they are estimated to occur in 1 per 20,00025,000 births.[4] A Dutch study estimated it to be 1 in 40,000.[5]
ICD10
E74.0 (http://apps.who.int/classifications/icd10/browse/2015/en#/E74.0)
ICD9 CM
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)
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.[6] Now classified with VI.[7] Has been described as Xlinked recessive.[8] GSD type X: In the past, considered a distinct condition.[9][10] Now classified with VI.[7] Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.
https://en.wikipedia.org/wiki/Glycogen_storage_disease
1/3
12/25/2015
Glycogen storage disease Wikipedia, the free encyclopedia
Number Enzyme deficiency Eponym
Incidence
Hypo Hepato Hyperlip Muscle glycemia? megaly? idemia? symptoms
Development/ Other prognosis symptoms
Yes
GSD type I
glucose6 phosphatase
von Gierke's disease
1 in 50,000[4] 100,000[11] births
GSD type II
acid alpha glucosidase
Pompe's disease
1 in 40,000 No births[5]50,000 [12]
GSD type III
Cori's glycogen disease or 1 in 100,000 births debranching enzyme Forbes' disease
GSD glycogen branching Andersen 1 to 500,000 [12] type IV enzyme disease
GSD type V
muscle glycogen phosphorylase
GSD liver glycogen type VI phosphorylase
McArdle disease Hers' disease
GSD muscle Tarui's type VII phosphofructokinase disease
Yes
Yes
None
Lactic Growth failure acidosis, hyperuricemia
Yes
No
Muscle weakness
*Death by age ~2 years heart failure (infantile variant)
Yes
Yes
Yes
Myopathy
No
Yes, also No cirrhosis
None
No
No
Exercise induced cramps, Rhabdomyolysis
Yes
Yes [15]
None
No
Exercise induced muscle growth cramps and retardation weakness
1 in 100,000[13]500,000 No [12]
1 in 65,000 85,000 Yes births[14] 1 in 1,000,000 [16]
No
No
Failure to thrive, death at age ~5 years Renal failure by myoglobinuria, second wind phenomenon
Haemolytic anaemia
Delayed motor development, Growth retardation
GSD phosphorylase type IX kinase, PHKA2
Yes
Yes
Yes
None
Fanconi GSD glucose transporter, Bickel type XI GLUT2 syndrome
Yes
Yes
No
None
?
?
?
Exercise intolerance, cramps Serum CK: Increasing Episodic intensity of elevations; myalgias over Reduced with decades[17] rest[17] Growth failure in some cases
GSD Aldolase A type XII
Red cell aldolase deficiency
GSD type XIII
βenolase
?
?
?
Exercise intolerance, cramps
GSD type 0
glycogen synthase
Yes
No
No
Occasional muscle cramping
References 1. "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 Dictionary 2. 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, 2009 5. 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". https://en.wikipedia.org/wiki/Glycogen_storage_disease
2/3
12/25/2015
Glycogen storage disease Wikipedia, the free encyclopedia
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 page was 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, 2008 15. 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 This page was last modified on 25 November 2015, at 00:00. Text is available under the Creative Commons AttributionShareAlike License; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a nonprofit organization.
https://en.wikipedia.org/wiki/Glycogen_storage_disease
3/3
Glycogen storage disease Wikipedia, the free encyclopedia
Glycogen storage disease From Wikipedia, the free encyclopedia
Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.[1]
Glycogen storage disease
GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.[2]
Contents 1 Prevalence 2 Types 3 References
Glycogen Classification and external resources
4 External links
Specialty endocrinology
Prevalence Overall, according to a study in British Columbia, approximately 2.3 children per 100 000 births (1 in 43,000) have some form of glycogen storage disease.[3] In the United States, they are estimated to occur in 1 per 20,00025,000 births.[4] A Dutch study estimated it to be 1 in 40,000.[5]
ICD10
E74.0 (http://apps.who.int/classifications/icd10/browse/2015/en#/E74.0)
ICD9 CM
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)
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.[6] Now classified with VI.[7] Has been described as Xlinked recessive.[8] GSD type X: In the past, considered a distinct condition.[9][10] Now classified with VI.[7] Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.
https://en.wikipedia.org/wiki/Glycogen_storage_disease
1/3
12/25/2015
Glycogen storage disease Wikipedia, the free encyclopedia
Number Enzyme deficiency Eponym
Incidence
Hypo Hepato Hyperlip Muscle glycemia? megaly? idemia? symptoms
Development/ Other prognosis symptoms
Yes
GSD type I
glucose6 phosphatase
von Gierke's disease
1 in 50,000[4] 100,000[11] births
GSD type II
acid alpha glucosidase
Pompe's disease
1 in 40,000 No births[5]50,000 [12]
GSD type III
Cori's glycogen disease or 1 in 100,000 births debranching enzyme Forbes' disease
GSD glycogen branching Andersen 1 to 500,000 [12] type IV enzyme disease
GSD type V
muscle glycogen phosphorylase
GSD liver glycogen type VI phosphorylase
McArdle disease Hers' disease
GSD muscle Tarui's type VII phosphofructokinase disease
Yes
Yes
None
Lactic Growth failure acidosis, hyperuricemia
Yes
No
Muscle weakness
*Death by age ~2 years heart failure (infantile variant)
Yes
Yes
Yes
Myopathy
No
Yes, also No cirrhosis
None
No
No
Exercise induced cramps, Rhabdomyolysis
Yes
Yes [15]
None
No
Exercise induced muscle growth cramps and retardation weakness
1 in 100,000[13]500,000 No [12]
1 in 65,000 85,000 Yes births[14] 1 in 1,000,000 [16]
No
No
Failure to thrive, death at age ~5 years Renal failure by myoglobinuria, second wind phenomenon
Haemolytic anaemia
Delayed motor development, Growth retardation
GSD phosphorylase type IX kinase, PHKA2
Yes
Yes
Yes
None
Fanconi GSD glucose transporter, Bickel type XI GLUT2 syndrome
Yes
Yes
No
None
?
?
?
Exercise intolerance, cramps Serum CK: Increasing Episodic intensity of elevations; myalgias over Reduced with decades[17] rest[17] Growth failure in some cases
GSD Aldolase A type XII
Red cell aldolase deficiency
GSD type XIII
βenolase
?
?
?
Exercise intolerance, cramps
GSD type 0
glycogen synthase
Yes
No
No
Occasional muscle cramping
References 1. "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 Dictionary 2. 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, 2009 5. 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". https://en.wikipedia.org/wiki/Glycogen_storage_disease
2/3
12/25/2015
Glycogen storage disease Wikipedia, the free encyclopedia
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 page was 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, 2008 15. 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 This page was last modified on 25 November 2015, at 00:00. Text is available under the Creative Commons AttributionShareAlike License; additional terms may apply. By using this site, you agree to the Terms of Use and Privacy Policy. Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc., a nonprofit organization.
https://en.wikipedia.org/wiki/Glycogen_storage_disease
3/3
