Congenital hyperinsulinism due to HNF4A deficiency
Synonyms: Hyperinsulinemic hypoglycemia due to HNF4A deficiency
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and characterized by macrosomia transient or persistent hyperinsulinemic hypoglycemia (HH) responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).
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
Newly diagnosed with
Congenital hyperinsulinism due to HNF4A 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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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