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Glycogen storage disease type 6

Other Names for this Disease
  • Glycogen storage disease 6
  • GSD6
  • Hers disease
  • Phosphorylase deficiency glycogen-storage disease of liver
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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


  1. Glycogen storage disease type VI. Genetics Home Reference. September 2010; Accessed 12/3/2012.
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