Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl