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Glycogen storage disease type 0


Other Names for this Disease

  • Glycogen storage disease type 0, liver
  • Glycogen synthetase deficiency
  • Glycogenosis, type 0
  • Hepatic glycogen synthase deficiency
  • Liver glycogen synthase deficiency
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Overview

Glycogen storage disease type 0 (GSD0), a form of glycogen storage disease (GSD), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose).[1] Unlike other types of GSD, GSD0 does not involve excessive or abnormal glycogen storage, and causes moderately decreased glycogen stores in the liver.[2] Symptoms typically begin in infancy or in early childhood and may include drowsiness, sweating, lack of attention, fasting hypoglycemia associated with hyperketonemia, seizures, and other findings.[2][1] It is caused by a deficiency of the enzyme glycogen synthetase in the liver, due to mutations in the GYS2 gene. It is inherited in an autosomal recessive manner. Treatment involves a specific diet that includes frequent meals with high protein intake during the day, and uncooked starch in the evening. The prognosis is usually favorable when the disease is correctly managed.[1] This condition differs from another form of GSD0 which chiefly affects the muscles and heart (Glycogen storage disease type 0, muscle) and is thought to be caused by mutations in the GYS1 gene.[3]
Last updated: 2/23/2011

References

  1. R. Froissart. Hepatic glycogen synthase deficiency. Orphanet. September 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2089. Accessed 2/20/2011.
  2. Lynne Ierardi-Curto. Glycogen-Storage Disease Type 0. eMedicine. June 28, 2010; http://emedicine.medscape.com/article/944467-overview. Accessed 2/20/2011.
  3. Victor A. McKusick. GLYCOGEN STORAGE DISEASE 0, MUSCLE. OMIM. October 26, 2007; http://www.ncbi.nlm.nih.gov/omim/611556. Accessed 2/23/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Glycogen storage disease type 0. This website is maintained by the National Library of Medicine.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Glycogen storage disease type 0. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Glycogen storage disease type 0, liver
  • Glycogen synthetase deficiency
  • Glycogenosis, type 0
  • Hepatic glycogen synthase deficiency
  • Liver glycogen synthase deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.