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GSD X was mismatched with the wrong enzyme, this was corrected. XII and XIII are muscle specific and therefore there's no reason to suspect correlation with hypoglycemia and hyperlipidemia despite lack of specific mention in the literature.
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A '''glycogen storage disease''' ('''GSD''', also '''glycogenosis''' and '''dextrinosis''') is a [[metabolic disorder]] caused by [[enzyme]] [[Deficiency (medicine)|deficiencies]] affecting either [[glycogen]] synthesis, glycogen breakdown or [[glycolysis]] (glucose breakdown), typically within [[muscle]]s and/or [[liver]] cells.{{citation needed|date=November 2017}}
A '''glycogen storage disease''' ('''GSD''', also '''glycogenosis''' and '''dextrinosis''') is a [[metabolic disorder]] caused by [[enzyme]] [[Deficiency (medicine)|deficiencies]] affecting either [[glycogen]] synthesis, glycogen breakdown or [[glycolysis]] (glucose breakdown), typically within [[muscle]]s and/or [[liver]] cells.{{citation needed|date=November 2017}}


GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any [[inborn error of metabolism]] (genetically defective [[enzyme]]s) involved in these processes. In livestock, acquired GSD is caused by [[Substance intoxication|intoxication]] with the [[alkaloid]] [[castanospermine]].<ref name="pmid7604496">{{cite journal|date=May 1995|title=The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in rats|url=|journal=Veterinary Pathology|volume=32|issue=3|pages=289–98|doi=10.1177/030098589503200311|issn=|pmid=7604496|vauthors=Stegelmeier BL, Molyneux RJ, Elbein AD, James LF}}<!--| accessdate = 2009-05-15--></ref>
GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any [[inborn error of metabolism]] (genetically defective [[enzyme]]s) involved in these processes. In livestock, acquired GSD is caused by [[Substance intoxication|intoxication]] with the [[alkaloid]] [[castanospermine]].<ref name="pmid7604496">{{cite journal|vauthors=Stegelmeier BL, Molyneux RJ, Elbein AD, James LF|date=May 1995|title=The lesions of locoweed (Astragalus mollissimus), swainsonine, and castanospermine in rats|url=|journal=Veterinary Pathology|volume=32|issue=3|pages=289–98|doi=10.1177/030098589503200311|issn=|pmid=7604496}}<!--| accessdate = 2009-05-15--></ref>


==Types==
==Types==
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|-
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| [[Glycogen storage disease type X|GSD X]] / GSD 10
| [[Glycogen storage disease type X|GSD X]] / GSD 10
|[[Phosphoglycerate mutase]]
| [[Enolase]]&nbsp;3 <br/>([[ENO3]])
([https://ghr.nlm.nih.gov/gene/PGAM2 PGAM2])
| ?
| ?
| ?
| ?
| ?
| ?
| ?
| ?
|Exercise-induced muscle cramps and weakness
⚫
|
|
|
|Myoglobinuria<ref>{{Cite web|url=https://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency|title=Phosphoglycerate mutase deficiency|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2019-02-06}}</ref>
|
|-
|-
| [[Glycogen storage disease type XI|GSD XI]] / GSD 11
| [[Glycogen storage disease type XI|GSD XI]] / GSD 11
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| [[Aldolase A]] <br/>([[ALDOA]])
| [[Aldolase A]] <br/>([[ALDOA]])
| ?
| ?
| ?
| No
| In some
| In some
| ?
| No
| [[Exercise intolerance]], [[cramps]]. In some Rhabdomyolysis.
| [[Exercise intolerance]], [[cramps]]. In some Rhabdomyolysis.
|
|
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| [[enolase|β-enolase]] <br/>([[ENO3]])
| [[enolase|β-enolase]] <br/>([[ENO3]])
| ?
| ?
⚫
| No
| ?
| ?
| ?
| No
| ?
| [[Exercise intolerance]], [[cramps]]
| [[Exercise intolerance]], [[cramps]]
| Increasing intensity of [[myalgia]]s over decades<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase">http://neuromuscular.wustl.edu/msys/glycogen.html#enolase</ref>
| Increasing intensity of [[myalgia]]s over decades<ref name="Httpneuromuscularwustledumsysglycogenhtmlenolase">http://neuromuscular.wustl.edu/msys/glycogen.html#enolase</ref>

Revision as of 04:52, 6 February 2019

Glycogen storage disease
Other namesGycogenosis, dextrinosis
Glycogen
SpecialtyEndocrinology Edit this on Wikidata

A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by enzyme deficiencies affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells.[citation needed]

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.[1]

Types

Type
(Eponym) 		Enzyme deficiency
(Gene[2]) 		Incidence (births) Hypo-
glycemia? 		Hepato-
megaly? 		Hyperlip-
idemia? 		Muscle symptoms Development/ prognosis Other symptoms
GSD 0 Glycogen synthase
(GYS2) 		? Yes No No Occasional muscle cramping Growth failure in some cases
GSD I / GSD 1
(von Gierke's disease) 		Glucose-6-phosphatase
(G6PC / SLC37A4) 		1 in 50,000 – 100,000[3][4] Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
GSD II / GSD 2
(Pompe's disease ) 		Acid alpha-glucosidase
(GAA) 		1 in 40,000 – 50,000.[5][6] No Yes No Muscle weakness *Death by age ~2 years (infantile variant) Heart failure
GSD III / GSD 3
(Cori's disease or Forbes' disease) 		Glycogen debranching enzyme
(AGL) 		1 in 100,000 Yes Yes Yes Myopathy
GSD IV / GSD 4
(Andersen disease) 		Glycogen branching enzyme
(GBE1) 		1 in 500,000[6] No Yes,
also
cirrhosis 		No Myopathy and dilated cardiomyopathy Failure to thrive, death at age ~5 years
GSD V / GSD 5
(McArdle disease) 		Muscle glycogen phosphorylase
(PYGM) 		1 in 100,000 – 500,000[7][6] No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria, second wind phenomenon
GSD VI / GSD 6
(Hers' disease) 		Liver glycogen phosphorylase
(PYGL)
Muscle phosphoglycerate mutase
(PGAM2) 		1 in 65,000 – 85,000[8] Yes Yes Yes [9] None initially benign, developmental delay follows.
GSD VII / GSD 7
(Tarui's disease) 		Muscle phosphofructokinase
(PKFM) 		1 in 1,000,000[10] No No No Exercise-induced muscle cramps and weakness developmental delay In some haemolytic anaemia
GSD IX / GSD 9 Phosphorylase kinase
(PHKA2 / PHKB / PHKG2 / PHKA1) 		? Yes Yes Yes None Delayed motor development, Developmental delay
GSD X / GSD 10 Phosphoglycerate mutase

(PGAM2)

? ? ? ? Exercise-induced muscle cramps and weakness Myoglobinuria[11]
GSD XI / GSD 11 Muscle lactate dehydrogenase
(LDHA) 		? ? ? ?
Fanconi-Bickel syndrome
formerly GSD XI / GSD 11, no longer considered a GSD 		Glucose transporter
(GLUT2) 		? Yes Yes No None
GSD XII / GSD 12
(Aldolase A deficiency) 		Aldolase A
(ALDOA) 		? No In some No Exercise intolerance, cramps. In some Rhabdomyolysis. Hemolytic anemia and other symptoms
GSD XIII / GSD 13 β-enolase
(ENO3) 		? No ? No Exercise intolerance, cramps Increasing intensity of myalgias over decades[12] Serum CK: Episodic elevations; Reduced with rest[12]
GSD XV / GSD 15 Glycogenin-1
(GYG1) 		Rare[13] No No No Muscle atropy Slowly progressive weakness over decades None

Remarks:

  • Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset).
  • Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D.[2]
  • GSD type 0: 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 (GSD 8): In the past it was considered a distinct condition,[14] however it is now classified with GSD type VI[15] or GSD IXa1;[16] it has been described as X-linked recessive inherited.[17]
  • GSD type XI (GSD 11): Fanconi-Bickel syndrome, hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease.[2]
  • GSD type XIV (GSD 14): Now classed as Congenital disorder of glycosylation type 1 (CDG1T), affects the phosphoglucomutase enzyme (gene PGM1).[2]
  • Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder.[18]

Diagnosis

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

Treatment

Treatment is dependent on the type of glycogen storage disease. E.g. GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor.[19]

Epidemiology

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.[20] In the United States, they are estimated to occur in 1 per 20,000–25,000 births.[3] Dutch incidence rate is estimated to be 1 per 40,000 births.

References

  1. ^ 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.
  2. ^ a b c d Glycogen Metabolism themedicalbiochemistrypage.org
  3. ^ a b eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
  4. ^ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD Archived 2010-08-03 at the Wayback Machine October 2006.
  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): 713–716. doi:10.1038/sj.ejhg.5200367. PMID 10482961.
  6. ^ a b c [1]
  7. ^ http://mcardlesdisease.org/
  8. ^ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
  9. ^ Goldman, Lee; Schafer, Andrew (2012). Goldman's Cecil medicine (24th ed.). Philadelphia: Elsevier/Saunders. p. 1356. ISBN 978-1-4377-1604-7.
  10. ^ "Rare Disease Database". Orpha.net. Retrieved 2015-09-20.
  11. ^ Reference, Genetics Home. "Phosphoglycerate mutase deficiency". Genetics Home Reference. Retrieved 2019-02-06.
  12. ^ a b http://neuromuscular.wustl.edu/msys/glycogen.html#enolase
  13. ^ Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A (2014) A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol 76(6):891-898
  14. ^ Ludwig M, Wolfson S, Rennert O (October 1972). "Glycogen storage disease, type 8". Arch. Dis. Child. 47 (255): 830–833. doi:10.1136/adc.47.255.830. PMC 1648209. PMID 4508182.
  15. ^ "Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto". eMedicine.
  16. ^ GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 OMIM - Online Mendelian Inheritance in Man
  17. ^ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
  18. ^ Ortolano S, Vieitez I et al. Loss of cortical neurons underlies the neuropathology of Lafora disease. Mol Brain 2014;7:7 PMC 3917365
  19. ^ "Glycogen Storage Disease Type I - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 23 March 2017.
  20. ^ 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.
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