ORPHA:324575
Hyperinsulinism due to HNF1A deficiency
Also called Hyperinsulinemic hypoglycemia due to HNF1A deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal dominant
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:324575 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Hyperinsulinemic hypoglycemia
- Neonatal hypotonia
- Neonatal hypoglycemia
- Increased C-peptide level
- Excessive insulin response to glucagon test
- Decreased circulating free fatty acid level