hyperinsulinaemic hypoglycaemia—familial—3

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hyperinsulinaemic hypoglycaemia—familial—32016-11-26T04:42:23+00:00

hyperinsulinaemic hypoglycaemia—familial—3 

ENDOCRINOLOGY, METABOLISM

An autosomal dominant condition (OMIM:602485), that is the most common cause of severe episodic hypoglycaemia in infancy. Early and aggressive control of hypoglycaemia is needed to prevent brain damage.

Molecular pathology Defects in GCK, which encodes a glucokinase that phosphorylates glucose, cause hyperinsulinaemic hypoglycemia—familial—3.

Synonyms Congenital hyperinsulinism, familial hyperinsulinemic hypoglycemia type 3, HHF3, persistent hyperinsulinemic hypoglycemia of infancy, PHHI

References http://www.uniprot.org/uniprot/P35557

http://www.omim.org/entry/602485 

 

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