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Xu, C. Glycogen Storage Disease Type 0. Encyclopedia. Available online: https://encyclopedia.pub/entry/4034 (accessed on 25 September 2026).
Xu C. Glycogen Storage Disease Type 0. Encyclopedia. Available at: https://encyclopedia.pub/entry/4034. Accessed September 25, 2026.
Xu, Camila. "Glycogen Storage Disease Type 0" Encyclopedia, https://encyclopedia.pub/entry/4034 (accessed September 25, 2026).
Xu, C. (2020, December 23). Glycogen Storage Disease Type 0. In Encyclopedia. https://encyclopedia.pub/entry/4034
Xu, Camila. "Glycogen Storage Disease Type 0." Encyclopedia. Web. 23 December, 2020.
Glycogen Storage Disease Type 0
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-0

Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.

genetic conditions

References

  1. Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage disease type 0) presenting withhyperglycemia and glucosuria: report of three new mutations. J Pediatr. 2002Jun;140(6):781-3.
  2. Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D,Halliday W, Raiman J, Robinson BH. Identification of a novel mutation in GYS1(muscle-specific glycogen synthase) resulting in sudden cardiac death, that isdiagnosable from skin fibroblasts. Mol Genet Metab. 2009 Dec;98(4):378-82. doi:10.1016/j.ymgme.2009.07.012.
  3. Fredriksson J, Anevski D, Almgren P, Sjögren M, Lyssenko V, Carlson J, Isomaa B, Taskinen MR, Groop L, Orho-Melander M; Botnia Study Group. Variation in GYS1interacts with exercise and gender to predict cardiovascular mortality. PLoS One.2007 Mar 14;2(3):e285.
  4. Groop L, Orho-Melander M. New insights into impaired muscle glycogensynthesis. PLoS Med. 2008 Jan 29;5(1):e25. doi: 10.1371/journal.pmed.0050025.
  5. Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P,Oldfors A, Holme E. Cardiomyopathy and exercise intolerance in muscle glycogenstorage disease 0. N Engl J Med. 2007 Oct 11;357(15):1507-14.
  6. Nessa A, Kumaran A, Kirk R, Dalton A, Ismail D, Hussain K. Mutational analysisof the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. J PediatrEndocrinol Metab. 2012;25(9-10):963-7. doi: 10.1515/jpem-2012-0165.
  7. Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, GannonMC, Nuttall FQ, Groop LC. Mutations in the liver glycogen synthase gene inchildren with hypoglycemia due to glycogen storage disease type 0. J Clin Invest.1998 Aug 1;102(3):507-15.
  8. Soggia AP, Correa-Giannella ML, Fortes MA, Luna AM, Pereira MA. A novelmutation in the glycogen synthase 2 gene in a child with glycogen storage diseasetype 0. BMC Med Genet. 2010 Jan 5;11:3. doi: 10.1186/1471-2350-11-3.
  9. Spiegel R, Mahamid J, Orho-Melander M, Miron D, Horovitz Y. The variableclinical phenotype of liver glycogen synthase deficiency. J Pediatr EndocrinolMetab. 2007 Dec;20(12):1339-42.
  10. Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y,Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I. Muscle glycogenstorage disease 0 presenting recurrent syncope with weakness and myalgia.Neuromuscul Disord. 2012 Feb;22(2):162-5. doi: 10.1016/j.nmd.2011.08.008.
  11. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthasedeficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol GenetMetab. 2006 Apr;87(4):284-8.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
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Update Date: 23 Dec 2020
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