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hyperinsulinism due to glucokinase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae.
Uniprot Description Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur.
Mondo Term and Equivalent IDs
MONDO:0011236:  hyperinsulinism due to glucokinase deficiency
GARD:0002818: 
GARD:0009930: 
MESH:C538374: 
Orphanet:79299: 
SCTID:717182006: