Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Name: |
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
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Description: |
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.
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ORPHAcode: |
276598
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Synonyms: |
Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
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Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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