Congenital hyperinsulinism due to HNF4A deficiency
ORPHA:263455· ICD-10 E16.1
Definition
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).
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal