Congenital glucokinase-related hyperinsulinism
Synonyms: Glucokinase-related hyperinsulinemic hypoglycemia
A form of diffuse hyperinsulinism due to glucokinase hyperactivity and characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of hypoglycemia induced by fasting and glucose rich meals. The clinical spectrum can range from mild and intermediate cases that respond well to dietary modifications and medical management with diazoxide to severe cases that are unresponsive to diazoxide. The potential development of type 2 diabetes with age is another notable feature.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Congenital glucokinase-related hyperinsulinism?
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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.
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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