Diazoxide-resistant hyperinsulinism

MONDO:0017186

Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide.

Also known as: diazoxide-resistant hyperinsulinemic hypoglycemia

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Sub-types

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (0) Autosomal recessive hyperinsulinism due to SUR1 deficiency (0) Diazoxide-resistant diffuse hyperinsulinism (0) Diazoxide-resistant focal hyperinsulinism (0) Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency (0) Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Digestive system disorder (160) Endocrine system disorder (72) Glucose metabolism disease (60) Inborn errors of metabolism (45) Pancreas disorder (38) Hyperinsulinism (31) Human disease (14)

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