Гіперінсулінізм внаслідок дефіциту UCP2
ORPHA:276556· ICD-10 E16.1· Hyperinsulinism due to UCP2 deficiency
Визначення(English summary)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to UCP2 deficiency and characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal