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Genetic and Rare Diseases Information Center (GARD)

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Familial hyperinsulinism


Other Names for this Disease
  • CHI
  • Congenital hyperinsulinism
  • Congenital isolated hyperinsulinism
  • Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
  • Hyperinsulinemic hypoglycemia familial
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Overview

Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.[1]
Last updated: 12/21/2011

References

  1. Familial hyperinsulinism. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition/familial-hyperinsulinism. Accessed 12/21/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Familial hyperinsulinism. This website is maintained by the National Library of Medicine.

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 Familial hyperinsulinism. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • CHI
  • Congenital hyperinsulinism
  • Congenital isolated hyperinsulinism
  • Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
  • Hyperinsulinemic hypoglycemia familial
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.