ORPHA:79299
Congenital glucokinase-related hyperinsulinism
Also called Glucokinase-related hyperinsulinemic hypoglycemia
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:79299 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hyperinsulinemic hypoglycemia
- Hypoketotic hypoglycemia
- Recurrent hypoglycemia
- Fasting hyperinsulinemia
- Abnormal C-peptide level
- Seizure