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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glycogen storage disease type 6


Other Names for this Disease
  • Glycogen storage disease 6
  • Glycogen storage disease due to liver glycogen phosphorylase deficiency
  • Glycogen storage disease type 6B
  • Glycogenosis due to liver glycogen phosphorylase deficiency
  • Glycogenosis type 6B
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Overview

Glycogen storage disease type 6 is a genetic disease in which the liver cannot process sugar properly.  Symptoms usually begin in infancy or childhood and include low blood sugar (hypoglycemia), an enlarged liver (hepatomegaly), or an increase in the amount of lactic acid in the blood (lactic acidosis) particularly when an individual does not eat for a long time.  Symptoms improve significantly as individuals with this condition get older.  Glycogen storage disease type 6 is caused by mutations in the PYGL gene and is inherited in an autosomal recessive manner.[1]
Last updated: 12/4/2012

References

  1. Glycogen storage disease type VI. Genetics Home Reference. September 2010; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi. Accessed 12/3/2012.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. 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 6. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Glycogen storage disease 6
  • Glycogen storage disease due to liver glycogen phosphorylase deficiency
  • Glycogen storage disease type 6B
  • Glycogenosis due to liver glycogen phosphorylase deficiency
  • Glycogenosis type 6B
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.