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Diseases

Genetic and Rare Diseases Information Center (GARD)

Glycogen storage disease type 1B


Other Names for this Disease
  • GSD1B
  • Glucose-6-phosphate transport defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Glycogen storage disease type 1B (GSD1B) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. As a result, glycogen accumulates in cells throughout the body. In GSD1B, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. Signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. Affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. GSD1B is caused by changes (mutations) in the SLC37A4 gene and is inherited in an autosomal recessive manner.[1][2] Although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications.[2][3]
Last updated: 11/8/2015

References

  1. Glycogen storage disease type I. Genetics Home Reference. July 2015; http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i.
  2. Deeksha S Bali, PhD, Yuan-Tsong Chen, MD, PhD, and Jennifer L Goldstein, PhD, MS, CGC. Glycogen Storage Disease Type I. GeneReviews. September 2013; http://www.ncbi.nlm.nih.gov/books/NBK1312/#gsd1.Management.
  3. Wayne E Anderson, DO, FAHS, FAAN. Type Ib Glycogen Storage Disease. Medscape Reference. April 2014; http://emedicine.medscape.com/article/119412-overview.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Glycogen storage disease type 1B. 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.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 1B. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GSD1B
  • Glucose-6-phosphate transport defect
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.