hyperinsulinaemic hypoglycaemia type 5

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Related to Congenital hyperinsulinism: Congenital hypothyroidism

hyperinsulinaemic hypoglycaemia type 5

An autosomal dominant condition (OMIM:609968) characterised by persistent hypoglycaemia in infancy due to defective negative feedback regulation of insulin secretion by low serum glucose levels.
 
Molecular pathology
Defects of INSR cause hyperinsulinaemic hypoglycaemia type 5.
References in periodicals archive ?
Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.
Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation.
Acute insulin responses to calcium and tolbutamide do not differentiate focal from diffuse congenital hyperinsulinism.

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