Glycogen storage disease

Glycogen storage disease
Glycogen storage disease
Classification and external resources

Glycogen
ICD-10 E74.0
ICD-9 271.0
MeSH D006008

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] 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]

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 20,000-25,000 births.[4] A Dutch study estimated it to be 1 in 40,000.[5]

Types

Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain.

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 X-linked recessive.[8]
  • GSD type X: In the past, considered a distinct condition.[9][10] Now classified with VI.[7]


Number Enzyme deficiency Eponym Incidence Hypo-
glycemia
?
Hepato-
megaly
?
Hyperlip-
idemia
?
Muscle symptoms Development/ prognosis Other symptoms
GSD type I glucose-6-phosphatase von Gierke's disease 1 in 50,000[4]- 100,000[11] births Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
GSD type II acid maltase Pompe's disease 1 in 60,000- 140,000 births[5] No Yes No Muscle weakness *Death by age ~2 years (infantile variant) heart failure
GSD type III glycogen debrancher Cori's disease or Forbes' disease 1 in 100,000 births Yes Yes Yes Myopathy
GSD type IV glycogen branching enzyme Andersen disease No Yes,
also
cirrhosis
No None Failure to thrive, death at age ~5 years
GSD type V muscle glycogen phosphorylase McArdle disease 1 in 100,000[12] No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria
GSD type VI liver glycogen phosphorylase Hers' disease 1 in 65,000- 85,000 births[13] Yes Yes No None
GSD type VII muscle phosphofructokinase Tarui's disease No No No Exercise-induced muscle cramps and weakness growth retardation Haemolytic anaemia
GSD type IX phosphorylase kinase, PHKA2 - No No Yes None Delayed motor development, Growth retardation
GSD type XI glucose transporter, GLUT2 Fanconi-Bickel syndrome Yes Yes No None
GSD type XII Aldolase A Red cell aldolase deficiency  ?  ?  ? Exercise intolerance, cramps
GSD type XIII β-enolase -  ?  ?  ? Exercise intolerance, cramps Increasing intensity of myalgias over decades[14] Serum CK: Episodic elevations; Reduced with rest[14]
GSD type 0 glycogen synthase - Yes No No Occasional muscle cramping

References

  1. ^ "glycogen storage disease" 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, 1969-1996". Pediatrics 105 (1): e10. doi:10.1542/peds.105.1.e10. PMID 10617747. 
  4. ^ a b eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
  5. ^ a b 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1648209. 
  7. ^ a b "eMedicine - Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto". http://www.emedicine.com/ped/TOPIC2564.HTM. 
  8. ^ "Definition: glycogen storage disease type VIII from Online Medical Dictionary". http://cancerweb.ncl.ac.uk/cgi-bin/omd?glycogen+storage+disease+type+VIII. 
  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. 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. http://aem.asm.org/cgi/pmidlookup?view=long&pmid=760630. 
  11. ^ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD This page was created in October 2006.
  12. ^ http://mcardlesdisease.org/
  13. ^ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
  14. ^ a b http://neuromuscular.wustl.edu/msys/glycogen.html#enolase

Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • glycogen storage disease — n any of several metabolic disorders (as McArdle s disease or Pompe s disease) that are characterized esp. by abnormal deposits of glycogen in tissue, are caused by enzyme deficiencies in glycogen metabolism, and are usu. inherited as an… …   Medical dictionary

  • Glycogen storage disease type V — Classification and external resources ICD 10 E74.0 ICD 9 271.0 …   Wikipedia

  • Glycogen storage disease type III — Classification and external resources Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H E stain …   Wikipedia

  • Glycogen storage disease type II — Infobox Disease Name = Glycogen storage disease type II Caption = DiseasesDB = 5296 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232300 MedlinePlus = eMedicineSubj = med eMedicineTopic = 908 eMedicine mult = eMedicine2|ped|1866 |… …   Wikipedia

  • Glycogen storage disease type I — DiseaseDisorder infobox Name = Glycogen storage disease type I ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = Caption = OMIM = 232200 MedlinePlus = 000338 eMedicineSubj = ped eMedicineTopic = 2416 DiseasesDB = 5284 Glycogen storage disease… …   Wikipedia

  • Glycogen storage disease type IV — Infobox Disease Name = Glycogen storage disease type IV Caption = Glycogen DiseasesDB = 5303 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232500 MedlinePlus = eMedicineSubj = med eMedicineTopic = 910 eMedicine mult =… …   Wikipedia

  • Glycogen storage disease type VI — Infobox Disease Name = PAGENAME Caption = Glycogen DiseasesDB = 5311 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232700 MedlinePlus = eMedicineSubj = med eMedicineTopic = 912 eMedicine mult = eMedicine2|ped|2564 | MeshID = D006013… …   Wikipedia

  • Glycogen storage disease type 0 — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31944 ICD10 = ICD9 = ICDO = OMIM = 240600 OMIM mult = OMIM2|611556 | MedlinePlus = eMedicineSubj = ped eMedicineTopic = 873 MeshID = Glycogen storage disease type 0 is characterized by a… …   Wikipedia

  • Glycogen storage disease type IX — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 306000 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Glycogen storage disease type IX is a form of glycogen storage disease.It is associated with… …   Wikipedia

  • Glycogen storage disease type XI — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 227810 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Glycogen storage disease type XI is a form of glycogen storage disease.It is also known as Fanconi… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”