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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
Reference
OMIM: familial hyperinsulinemic hypoglycemia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00386 | P00367 | 2746 | GLUD1 | Glutamate dehydrogenase 1, mitochondrial | Homo sapiens |
| PTMD04939 | P35557 | 2645 | GCK | Hexokinase-4 | Homo sapiens |
| PTMD06323 | Q09428 | 6833 | ABCC8 | ATP-binding cassette sub-family C member 8 | Homo sapiens |
| PTMD06784 | Q14654 | 3767 | KCNJ11 | ATP-sensitive inward rectifier potassium channel 11 channel Kir6.2) | Homo sapiens |
