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

Sirolimus Therapy in Congenital Hyperinsulinism: A Successful Experience Beyond Infancy.
 

Author(s): Marta Minute, Giuseppa Patti, Gianluca Tornese, Elena Faleschini, Chiara Zuiani, Alessandro Ventura

Journal: Pediatrics. 2015 Nov;136(5):e1373-6.

 

Congenital hyperinsulinism (CHI) due to diffuse involvement of the pancreas is a challenging and severe illness in children. Its treatment is based on chronic therapy with diazoxide and/or octreotide, followed by partial pancreatectomy, which is often not resolutive. Sirolimus, a ...

Last Updated: 3 Nov 2015

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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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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 7 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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Congenital hyperinsulinism.
 

Author(s): Indrė Petraitienė, Giedrius Barauskas, Antanas Gulbinas, Dalius Malcius, Khalid Hussain, Gilvydas Verkauskas, Rasa Verkauskienė

Journal: Medicina (Kaunas). 2014 ;50(3):190-5.

 

Hyperinsulinism is the most common cause of hypoglycemia in infants. In many cases conservative treatment is not effective and surgical intervention is required. Differentiation between diffuse and focal forms and localization of focal lesions are the most important issues in preoperative ...

Last Updated: 17 Oct 2014

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Symptoms, Diagnosis, and Treatment

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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 7 Sep 2016

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Fluorodopa F 18 in Congenital Hyperinsulinism
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 27 Jul 2015

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CSI-Glucagon for Prevention of Hypoglycemia in Children With Congenital Hyperinsulinism
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 29 Nov 2016

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