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

Ketotic Hypoglycemia in Children with Previous Transient Congenital Hyperinsulinism.
 

Author(s): Prashant Patil, Dinesh Giri, Mohammed Didi, Senthil Senniappan

Journal: Indian Pediatr. 2018 02;55(2):167-168.

 

Congenital Hyperinsulinism (CHI) is a major cause of neonatal hypoglycemia characterised by non-ketotic hypoglycemia. We describe the occurrence and higher prevalence of ketotic hypoglycemia (KH) in 5 children with transient CHI. Four children had required diazoxide to control the ...

Last Updated: 31 Dec 1969

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Mechanistic Origins of Enzyme Activation in Human Glucokinase Variants Associated with Congenital Hyperinsulinism.
 

Author(s): Shawn M Sternisha, Peilu Liu, Alan G Marshall, Brian G Miller

Journal: Biochemistry. 2018 03;57(10):1632-1639.

 

Human glucokinase (GCK) acts as the body's primary glucose sensor and plays a critical role in glucose homeostatic maintenance. Gain-of-function mutations in gck produce hyperactive enzyme variants that cause congenital hyperinsulinism. Prior biochemical and biophysical studies suggest ...

Last Updated: 31 Dec 1969

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Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancy.
 

Author(s): Robert E Brown, Senthil Senniappan, Khalid Hussain, Mary F McGuire

Journal:

 

We first introduced the concept of the mTOR pathway's involvement in congenital hyperinsulinism of infancy (CHI), based largely on morphoproteomic observations and clinical outcomes using sirolimus (rapamycin) as a therapeutic agent in infants refractory to octreotide and diazoxide ...

Last Updated: 31 Dec 1969

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

Congenital Hyperinsulinism: Diagnosis and Treatment Update.
 

Author(s): Hüseyin Demirbilek, Khalid Hussain

Journal: J Clin Res Pediatr Endocrinol. 2017 Dec;9(Suppl 2):69-87.

 

Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate secretion of insulin in the presence of low plasma glucose levels and ...

Last Updated: 31 Dec 1969

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The diagnosis and management of congenital and adult-onset hyperinsulinism (nesidioblastosis) - literature review.
 

Author(s): Adam M Kowalewski, Łukasz Szylberg, Anna Kasperska, Andrzej Marszałek

Journal: Pol J Pathol. ;68(2):97-101.

 

Congenital and adult-onset hyperinsulinism (CHI) must be taken under consideration in the differential diagnosis of hypoglycaemia symptoms with endogenous hyperinsulinism, especially in cases in which there was failure to find an insulinoma. Histological examination is necessary for ...

Last Updated: 31 Dec 1969

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Congenital Hyperinsulinism in China: A Review of Chinese Literature Over the Past 15 Years.
 

Author(s): Wei Yan Wang, Yi Sun, Wen Ting Zhao, Tai Wu, Liang Wang, Tian Ming Yuan, Hui Min Yu

Journal: J Clin Res Pediatr Endocrinol. 2017 Sep;9(3):194-201.

 

Congenital hyperinsulinism (CHI) is a rare but severe cause of hypoglycemia. The present study investigates the clinical presentation, therapeutic outcomes and genetic mutations of CHI in Chinese individuals over the past 15 years.

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 15 Aug 2018

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Fluorodopa F 18 in Congenital Hyperinsulinism and Insulinoma
 

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism; Insulinoma

 

Last Updated: 17 Sep 2018

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

Status: Recruiting

Condition Summary: Congenital Hyperinsulinism

 

Last Updated: 8 Oct 2018

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