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Browse result for familial hyperinsulinemic hypoglycemia

※ introduction

    Familial hyperinsulinism, also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur (Thornton et al., 1998).

Reference
OMIM: familial hyperinsulinemic hypoglycemia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00386P003672746
GLUD1
Glutamate dehydrogenase 1, mitochondrial
Homo sapiens
PTMD04939P355572645
GCK
Hexokinase-4
Homo sapiens
PTMD06323Q094286833
ABCC8
ATP-binding cassette sub-family C member 8
Homo sapiens
PTMD06784Q146543767
KCNJ11
ATP-sensitive inward rectifier potassium channel 11 channel Kir6.2)
Homo sapiens