Autosomal dominant hyperinsulinism due to SUR1 deficiency

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Autosomal dominant hyperinsulinism due to SUR1 deficiency

Synonyms: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild escaping detection during infancy and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Autosomal dominant hyperinsulinism due to SUR1 deficiency?

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Advocacy Organizations

Congenital Hyperinsulinism International

CHI is the leading organization dedicated to improving the lives of people with hyperinsulinism (HI). HI is a life-threatening disorder that causes dangerously low blood sugar levels due to the over-production of insulin. Prolonged or severe low blood sugar can cause seizures, brain damage, and even death. CHI supports research toward better treatments and a cure, tirelessly advocates for timely diagnosis and improved standards of care, and supports people living with HI every step of the way.

Clinical Trials

For a list of clinical trials in this disease area, please click here.