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

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
 

Author(s): Arianna Maiorana, Lucilla Manganozzi, Fabrizio Barbetti, Silvia Bernabei, Giorgia Gallo, Raffaella Cusmai, Stefania Caviglia, Carlo Dionisi-Vici

Journal:

 

Congenital hyperinsulinism (CHI) is the most frequent cause of hypoglycemia in children. In addition to increased peripheral glucose utilization, dysregulated insulin secretion induces profound hypoglycemia and neuroglycopenia by inhibiting glycogenolysis, gluconeogenesis and lipolysis. ...

Last Updated: 24 Sep 2015

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Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism.
 

Author(s): Sofia A Rahman, Senthil Senniappan, Maha Sherif, Sophia Tahir, Khalid Hussain

Journal:

 

Congenital hyperinsulinism (CHI) is caused by unregulated insulin release and leads to hyperinsulinaemic-hypoglycaemia (HH). Glucagon like peptide-1 (GLP-1), glucose-dependent insulinotropic peptide (GIP), peptide YY (PYY) and the enzyme; dipeptidyl peptidase-4 (DPP-4) all regulate ...

Last Updated: 4 Sep 2015

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

Long-term medical treatment in congenital hyperinsulinism: a descriptive analysis in a large cohort of patients from different clinical centers.
 

Author(s): Alena Welters, Christian Lerch, Sebastian Kummer, Jan Marquard, Burak Salgin, Ertan Mayatepek, Thomas Meissner

Journal:

 

Up to now, only limited data on long-term medical treatment in congenital hyperinsulinism (CHI) is available. Moreover, most of the drugs used in CHI are therefore not approved. We aimed to assemble more objective information on medical treatment in CHI with regard to type and duration, ...

Last Updated: 26 Nov 2015

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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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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: 18 Jul 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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