ORPHA:276598

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Also called Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

Unknown (Worldwide)

Rarity class

Unknown

ORPHA:276598 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.