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hyperinsulinemic hypoglycemia, familial, 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene.
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. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion.
Mondo Term and Equivalent IDs
MONDO:0012382:  hyperinsulinemic hypoglycemia, familial, 4
MESH:C566493: 
SCTID:721236002: 
UMLS:C1864948: 
UMLS:C4303473: