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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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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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 61 free, full-text research articles on human participants. First 3 results:

Nifedipine in Congenital Hyperinsulinism - A Case Report.
 

Author(s): Papiya Khawash, Khalid Hussain, Sarah E Flanagan, Sudip Chatterjee, Dhananjoy Basak

Journal: J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):151-4.

 

Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycemia in neonates. Diazoxide is the first-line drug in its treatment, but the more severe cases are usually diazoxide-resistant. Recessive ABCC8 and KCNJ11 mutations are responsible for most (82%) of the ...

Last Updated: 28 Aug 2015

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Altered Phenotype of β-Cells and Other Pancreatic Cell Lineages in Patients With Diffuse Congenital Hyperinsulinism in Infancy Caused by Mutations in the ATP-Sensitive K-Channel.
 

Author(s): Rachel J Salisbury, Bing Han, Rachel E Jennings, Andrew A Berry, Adam Stevens, Zainab Mohamed, Sarah A Sugden, Ronald De Krijger, Sarah E Cross, Paul P V Johnson, Melanie Newbould, Karen E Cosgrove, Karen Piper Hanley, Indraneel Banerjee, Mark J Dunne, Neil A Hanley

Journal: Diabetes. 2015 Sep;64(9):3182-8.

 

Diffuse congenital hyperinsulinism in infancy (CHI-D) arises from mutations inactivating the KATP channel; however, the phenotype is difficult to explain from electrophysiology alone. Here we studied wider abnormalities in the β-cell and other pancreatic lineages. Islets were disorganized ...

Last Updated: 21 Aug 2015

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Intraductal papillary mucinous neoplasm in a neonate with congenital hyperinsulinism and a de novo germline SKIL gene mutation.
 

Author(s): Yuchen Jiao, Kimberly Lumpkins, Julia Terhune, Ralph H Hruban, Alison Klein, Kenneth W Kinzler, Nickolas Papadopoulos, Bert Vogelstein, Eric Strauch

Journal: Pancreatology. ;15(2):194-6.

 

A 3 day old infant with persistent severe hypoglycemia was found to have a cystic pancreatic tumor. Cessation of glucose infusion led to severe hypoglycemia. Pancreaticoduodenectomy was performed and revealed an intraductal papillary mucinous neoplasm (IPMN) with high-grade dysplasia. ...

Last Updated: 6 Apr 2015

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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 5 free, full-text review articles on human participants. First 3 results:

Molecular mechanisms of congenital hyperinsulinism.
 

Author(s): Sofia A Rahman, Azizun Nessa, Khalid Hussain

Journal: J. Mol. Endocrinol.. 2015 Apr;54(2):R119-29.

 

Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as ...

Last Updated: 30 Mar 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 27 Jul 2015

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A Single-Dose Open-Label Study of XOMA 358 in Subjects With Congenital Hyperinsulinism
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 2 Feb 2016

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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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