Congenital hyperinsulinism due to HNF4A deficiency

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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 March 2024

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