ORPHA:263455
Congenital hyperinsulinism due to HNF4A deficiency
Also called Hyperinsulinemic hypoglycemia due to HNF4A 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:263455 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Elevated circulating hepatic transaminase concentration
- Fasting hypoglycemia
- Increased body weight
- Abnormal circulating fatty-acid concentration
- Pancreatic islet-cell hyperplasia
- Hypoketotic hypoglycemia