ORPHA:276580
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Also called Dominant KATP hyperinsulinism due to Kir6.2 deficiency, Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:276580 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hyperinsulinemic hypoglycemia
- Hyperinsulinemia
- Hypoketotic hypoglycemia
- Fasting hypoglycemia
- Increased C-peptide level
- Excessive insulin response to glucagon test