Hyperinsulinemic Hypoglycemia of Infancy

Metabolic diseases In the pancreatic (3-cells, KATP channel derived from >SUR1 and Kir6.2, links cellular metabolism to electrical activity and regulates insulin secretion. Mutations in SUR1 and Kir6.2 that result in loss of Katp channel function have been identified in families with familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI). 

Persistant hyperinsulinemic hypoglycemia of infancy (PHHI) SUR1 subunits of ATP-sensitive potassium channels (KATP) Sulfonylurea... 

Data in part from Ackerman NJ, Clapham DE Ion channels— basic science and clinical disease. N Engl J Med 1997,-336 1575. Other channelopathies include the long QT syndrome (MIM 192500) pseudoaldosteronism (Liddle syndrome, MIM 177200) persistent hyperinsulinemic hypoglycemia of infancy (MIM 601820) hereditary X-linked recessive type II nephrolithiasis of infancy (Dent syndrome, MIM 300009) and generalized myotonia, recessive (Becker disease, MIM 255700). The term "myotonia" signifies any condition in which muscles do not relax after contraction. 

Glucagon, used to treat persistent hyperinsulinemic hypoglycemia of infancy, caused erythema necrolyticum migrans in two neonates (17). 

Non-insulin-dependent diabetes mellitus Persistent hyperinsulinemic hypoglycemia of infancy... 

Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995 268(5209) 426-429. 

Thomas PM, Wohllk N, Huang E, Kuhnle U, Rabl W, Gagel RF, Cote GJ. Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy. Am J Hum Genet 1996 59(3) 510-518. 

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