Glycogen storage disease type 1A
Other Names for this Disease
- Glucose-6-phosphatase deficiency
- Glucose-6-phosphatase deficiency glycogen storage disease
- Glycogen storage disease 1A
- Glycogenosis type 1
Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Researchers have described two types of glycogen storage disease type 1, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type IA and glycogen storage disease type IB.
Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures. Untreated children typically have doll-like faces with fat cheeks and relatively thin extremities. Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene. This condition is inherited in an autosomal recessive pattern.
- Glycogen storage disease type I. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i. Accessed 12/8/2010.
- Bali DS, Chen YT. Glycogen Storage Disease Type I. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/books/NBK1312/. Accessed 12/8/2010.
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- Genetics Home Reference (GHR) contains information on Glycogen storage disease type 1A. This website is maintained by the National Library of Medicine.
- The American Liver Foundation provides information about glycogen storage disease type 1. Click on the link to view this information.
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- The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the 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.
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- The Online Mendelian Inheritance in Man (OMIM) is an 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.
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