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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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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]
References
- Glycogen storage disease type VI. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi. Accessed December 3, 2012.
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General 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.
- 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.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Glycogen storage disease type 6. Click on the link to go to OMIM and review these resources.