Гіперінсулінізм внаслідок дефіциту коротколанцюгової 3-гідроксилацил-КоА-дегідрогенази
ORPHA:71212· ICD-10 E71.3· Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Визначення(English summary)
A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal