Glycogen Storage Diseases
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Glycogen Storage Diseases
Glycogen storage disease
Other namesGycogenosis, dextrinosis
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.[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]


Enzyme deficiency
Incidence (births) Hypo-
Muscle symptoms Development/ prognosis Other symptoms
GSD 0 Glycogen synthase
? Yes No No Occasional muscle cramping Growth failure in some cases
(von Gierke's disease)
(G6PC / SLC37A4)
1 in 50,000 - 100,000[4][5][6] Yes Yes Yes None Growth failure Lactic acidosis, hyperuricemia
(Pompe's disease )
Acid alpha-glucosidase
1 in 40,000 - 50,000.[7][8] No Yes No Muscle weakness *Death by age ~2 years (infantile variant) Heart failure
(Cori's disease or Forbes' disease)
Glycogen debranching enzyme
1 in 100,000 Yes Yes Yes Myopathy
(Andersen disease)
Glycogen branching enzyme
1 in 500,000[8] No Yes,
No Myopathy and dilated cardiomyopathy Failure to thrive, death at age ~5 years
(McArdle disease)
Muscle glycogen phosphorylase
1 in 100,000 - 500,000[9][8] No No No Exercise-induced cramps, Rhabdomyolysis Renal failure by myoglobinuria, second wind phenomenon
(Hers' disease)
Liver glycogen phosphorylase
Muscle phosphoglycerate mutase
1 in 65,000 - 85,000[10] Yes Yes Yes [11] None initially benign, developmental delay follows.
(Tarui's disease)
Muscle phosphofructokinase
1 in 1,000,000[12] No No No Exercise-induced muscle cramps and weakness developmental delay In some haemolytic anaemia
GSD IX / GSD 9 Phosphorylase kinase
? Yes Yes Yes None Delayed motor development, Developmental delay
GSD X / GSD 10 Phosphoglycerate mutase


? ? ? ? Exercise-induced muscle cramps and weakness Myoglobinuria[13]
GSD XI / GSD 11 Muscle lactate dehydrogenase
? ? ? ?
Fanconi-Bickel syndrome
formerly GSD XI / GSD 11, no longer considered a GSD
Glucose transporter
? Yes Yes No None
Aldolase A
? No In some No Exercise intolerance, cramps. In some Rhabdomyolysis. Hemolytic anemia and other symptoms
GSD XIII / GSD 13 ?-enolase
? No ? No Exercise intolerance, cramps Increasing intensity of myalgias over decades[14] Serum CK: Episodic elevations; Reduced with rest[14]
GSD XV / GSD 15 Glycogenin-1
Rare[15] No No No Muscle atropy Slowly progressive weakness over decades None


  • 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.[3]
  • 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,[16] however it is now classified with GSD type VI[17] or GSD IXa1;[18] it has been described as X-linked recessive inherited.[19]
  • GSD type XI (GSD 11): Fanconi-Bickel syndrome, hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease.[3]
  • GSD type XIV (GSD 14): Now classed as Congenital disorder of glycosylation type 1 (CDG1T), affects the phosphoglucomutase enzyme (gene PGM1).[3]
  • Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder.[20]


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


Treatment is dependent on the type of glycogen storage disease. GSD I is typically treated with frequent small meals of carbohydrates and cornstarch, called modified cornstarch therapy, to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor.[21]


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.[22] In the United States, they are estimated to occur in 1 per 20,000-25,000 births.[4] Dutch incidence rate is estimated to be 1 per 40,000 births. While a Mexican incidence showed 6.78:1000 male newborns.[23][24]


  1. ^ Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine: 1-5. doi:10.3233/NPM-1831. PMID 30741698.
  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. ^ a b c d Glycogen Metabolism
  4. ^ a b eMedicine Specialties > Glycogen-Storage Disease Type I Author: Karl S Roth. Updated: Aug 31, 2009
  5. ^ The Association for Glycogen Storage Disease > Type I Glycogen Storage Disease Type I GSD Archived 2010-08-03 at the Wayback Machine October 2006.
  6. ^ Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (4 February 2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine: 1-5. doi:10.3233/NPM-1831. PMID 30741698.
  7. ^ 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.
  8. ^ a b c Stuart, Grant; Ahmad, Nargis (2011). "Perioperative care of children with inherited metabolic disorders". Continuing Education in Anaesthesia Critical Care & Pain. 11 (2): 62-68. doi:10.1093/bjaceaccp/mkq055.
  9. ^
  10. ^ eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases > Glycogen-Storage Disease Type VI Author: Lynne Ierardi-Curto, MD, PhD. Updated: Aug 4, 2008
  11. ^ Goldman, Lee; Schafer, Andrew (2012). Goldman's Cecil medicine (24th ed.). Philadelphia: Elsevier/Saunders. p. 1356. ISBN 978-1-4377-1604-7.
  12. ^ "Rare Disease Database". Retrieved .
  13. ^ Reference, Genetics Home. "Phosphoglycerate mutase deficiency". Genetics Home Reference. Retrieved .
  14. ^ a b "Glycogenoses".
  15. ^ 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
  16. ^ 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.
  17. ^ "Glycogen-Storage Disease Type VI : Article by Lynne Ierardi-Curto". eMedicine. 2019-02-02.
  18. ^ GLYCOGEN STORAGE DISEASE IXa1; GSD9A1 OMIM - Online Mendelian Inheritance in Man
  19. ^ "Definition: glycogen storage disease type VIII from Online Medical Dictionary".
  20. ^ Ortolano S, Vieitez I et al. Loss of cortical neurons underlies the neuropathology of Lafora disease. Mol Brain 2014;7:7 PMC 3917365
  21. ^ "Glycogen Storage Disease Type I - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2017.
  22. ^ 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.
  23. ^ Cantú-Reyna, C.; Santos-Guzmán, J.; Cruz-Camino, H.; Vazquez Cantu, D.L.; Góngora-Cortéz, J.J.; Gutiérrez-Castillo, A. (4 February 2019). "Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population". Journal of Neonatal-Perinatal Medicine: 1-5. doi:10.3233/NPM-1831. PMID 30741698.
  24. ^ Cantú-Reyna, Consuelo; Zepeda, Luis Manuel; Montemayor, René; Benavides, Santiago; González, Héctor Javier; Vázquez-Cantú, Mercedes; Cruz-Camino, Héctor (27 September 2016). "Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital" (PDF). Journal of Inborn Errors of Metabolism and Screening. 4: 232640981666902. doi:10.1177/2326409816669027.

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