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Congenital hyperinsulinism due to HNF4A deficiency

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Name:
Congenital hyperinsulinism due to HNF4A deficiency
Description:
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).
ORPHAcode:
263455
Synonyms:
Hyperinsulinemic hypoglycemia due to HNF4A deficiency
XREF(s):
Orphanet
Analyte(s):
HNF4A
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14