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| Glycogen storage disease type 0 Classification and external resources |
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| OMIM | 240600 611556 |
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| DiseasesDB | 31944 |
| eMedicine | ped/873 |
Glycogen storage disease type 0 is characterized by a deficiency in the glycogen synthase enzyme. Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs because it is another defect of glycogen storage and can cause similar problems.
There are two versions:
- The muscle version involves GYS1.
- The liver version involves GYS2.[1]
Additional Information
http://www.emedicine.com/PED/topic873.htm
References
- ^ Orho M, Bosshard NU, Buist NR, et al (August 1998). "Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0". J. Clin. Invest. 102 (3): 507–15. doi:. PMID 9691087. PMC:508911.
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