Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency

Orpha code: 276598OMIM code: 256450

Definition

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 <i>ABCC8</i> 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.

Disease data
Classification

Disease

Synonyms
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
Hipoglikemia hiperinsulinemiczna z powodu niedoboru SUR1, postać ogniskowa oporna na diazoksyd
ORPHA code
276598
OMIM code
256450
ICD10 code
E16.1
ICD11 code
-

No additional description.

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