Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

What is Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency?

A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic beta-cells due to a mutation in the ABCC8 gene. Pancreatic involvement is focal and can be cured by a selective partial pancreatectomy. Hypoglycemia may lead to variable clinical manifestations, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.

Other condition names

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

Inheritance type

Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
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