Congenital Hyperinsulinism

Common Name(s)

Congenital Hyperinsulinism, Familial hyperinsulinism

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Hyperinsulinism" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Congenital Hyperinsulinism International

To improve the lives of people living with congenital hyperinsulinism.

Last Updated: 19 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Hyperinsulinism" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Congenital Hyperinsulinism International

To improve the lives of people living with congenital hyperinsulinism.

http://www.congenitalhi.org

Last Updated: 19 Feb 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Hyperinsulinism" returned 48 free, full-text research articles on human participants. First 3 results:

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
 

Author(s): Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli, Rosanna Asselta, Paola Sogno Valin, Stefania Di Candia, Ilaria Zamproni, Cecilia Diceglie, Stefano Mora, Manuela Caruso-Nicoletti, Alessandro Salvatoni, Gianluca De Bellis, Cristina Battaglia

Journal:

 

Congenital hyperinsulinism of infancy (CHI) is a rare disorder characterized by severe hypoglycemia due to inappropriate insulin secretion. The genetic causes of CHI have been found in genes regulating insulin secretion from pancreatic β-cells; recessive inactivating mutations in ...

Last Updated: 22 Jul 2013

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Dominant form of congenital hyperinsulinism maps to HK1 region on 10q.
 

Author(s): Sara E Pinney, Karthik Ganapathy, Jonathan Bradfield, David Stokes, Ariella Sasson, Katarzyna Mackiewicz, Kara Boodhansingh, Nkecha Hughes, Susan Becker, Stephanie Givler, Courtney Macmullen, Dimitrios Monos, Arupa Ganguly, Hakon Hakonarson, Charles A Stanley

Journal: Horm Res Paediatr. 2013 ;80(1):18-27.

 

In a family with congenital hyperinsulinism (HI), first described in the 1950s by McQuarrie, we examined the genetic locus and clinical phenotype of a novel form of dominant HI.

Last Updated: 14 Aug 2013

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Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism.
 

Author(s): Pei-Chun Chen, Erik M Olson, Qing Zhou, Yelena Kryukova, Heidi M Sampson, David Y Thomas, Show-Ling Shyng

Journal: J. Biol. Chem.. 2013 Jul;288(29):20942-54.

 

ATP-sensitive potassium (KATP) channels consisting of sulfonylurea receptor 1 (SUR1) and the potassium channel Kir6.2 play a key role in insulin secretion by coupling metabolic signals to β-cell membrane potential. Mutations in SUR1 and Kir6.2 that impair channel trafficking to the ...

Last Updated: 22 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Hyperinsulinism" returned 3 free, full-text review articles on human participants. First 3 results:

Mechanisms of amino acid-stimulated insulin secretion in congenital hyperinsulinism.
 

Author(s): Tingting Zhang, Changhong Li

Journal: Acta Biochim. Biophys. Sin. (Shanghai). 2013 Jan;45(1):36-43.

 

The role of amino acids in the regulation of insulin secretion in pancreatic beta-cells is highlighted in three forms of congenital hyperinsulinism (HI), namely gain-of-function mutations of glutamate dehydrogenase (GDH), loss-of-function mutations of ATP-dependent potassium channels, ...

Last Updated: 21 Dec 2012

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The value of radiologic interventions and (18)F-DOPA PET in diagnosing and localizing focal congenital hyperinsulinism: systematic review and meta-analysis.
 

Author(s): Björn A Blomberg, Mateen C Moghbel, Babak Saboury, Charles A Stanley, Abass Alavi

Journal: Mol Imaging Biol. 2013 Feb;15(1):97-105.

 

This systematic review and meta-analysis aimed to quantify the diagnostic performance of pancreatic venous sampling (PVS), selective pancreatic arterial calcium stimulation with hepatic venous sampling (ASVS), and (18)F-DOPA positron emission tomography (PET) in diagnosing and localizing ...

Last Updated: 24 Jan 2013

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Congenital hyperinsulinism: current trends in diagnosis and therapy.
 

Author(s): Jean-Baptiste Arnoux, Virginie Verkarre, Cécile Saint-Martin, Françoise Montravers, Anaïs Brassier, Vassili Valayannopoulos, Francis Brunelle, Jean-Christophe Fournet, Jean-Jacques Robert, Yves Aigrain, Christine Bellanné-Chantelot, Pascale de Lonlay

Journal:

 

Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial consanguinity. Recurrent episodes ...

Last Updated: 24 Oct 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Fluorodopa F 18 in Congenital Hyperinsulinism
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 1 Apr 2014

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Lanreotide Autogel Treatment of Patients With Congenital Hyperinsulinism of Infancy
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 12 Dec 2012

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Effect of Exendin-(9-39) On Glucose Requirements To Maintain Euglycemia
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 16 Jan 2014

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