hyperinsulinaemic hypoglycaemia—familial—1

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hyperinsulinaemic hypoglycaemia—familial—12016-11-26T04:36:55+00:00

hyperinsulinaemic hypoglycaemia—familial—1

ENDOCRINOLOGY

Definition Hyperinsulinaemic hypoglycaemia—familial—1 is an inherited disorder (OMIM:256450) that is the most common cause of persistent hypoglycaemia in infancy which, in absence of early and aggressive intervention, causes permanent brain damage due to severe episodic hypoglycaemia.

Molecular pathology Defects of ABCC8, which encodes a protein that transports various molecules across extra- and intra-cellular membranes and modulates ATP-sensitive K+  channels and insulin release, cause hyperinsulinaemic hypoglycaemia—familial—1. 

Synonyms Congenital hyperinsulinism, hyperinsulinaemic hypoglycaemia due to focal adenomatous hyperplasia, hyperinsulinism—familial—with pancreatic nesidioblastosis, hypoglycaemia—hyperinsulinaemic—of infancy, nesidioblastosis of pancreas, persistent hyperinsulinaemic hypoglycaemia of infancy

References http://www.uniprot.org/uniprot/Q09428

http://www.omim.org/entry/256450

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