Persistent hyperinsulinemic hypoglycemia of infancy
- 11 September 2003
- journal article
- review article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 122A (4) , 351-353
- https://doi.org/10.1002/ajmg.a.20480
Abstract
In persistent hyperinsulinemic hypoglycemia (PHHI) of infancy, secretion of insulin is unregulated, resulting in profound hypoglycemia. Two histopathologic forms are known: focal adenomatous islet-cell hyperplasia and diffuse abnormalities of β-cell hyperfunction. PHHI is caused by mutations in SUR1, which is a member of the ATP-binding cassette superfamily, and in Kir6.2, which is a member of the inwardly rectifying family of potassium channels.Keywords
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