Persistent Hyperinsulinemia Hypoglycemia of Infancy definition

Persistent Hyperinsulinemia Hypoglycemia of Infancy
Congenital Hyperinsulinism; Hyperinsulinemia Hypoglycemia of Infancy; PHHI Hypoglycemia; Hyperinsulinism, Congenital; Hypoglycemia, PHHI; Infancy Hyperinsulinemia Hypoglycemia
A form of nontransient HYPOGLYCEMIA, unique to infancy, due to autosomal recessive mutations of the sulfonylurea receptor gene on CHROMOSOME 11. Defects in the sulfonylurea receptors (ATP-BINDING CASSETTE TRANSPORTERS) on the PANCREATIC BETA CELLS prevent negative feedback of GLUCOSE-regulated INSULIN release thus resulting in HYPERINSULINEMIA. Clinical phenotype includes SEIZURES; COMA; and often large BIRTH WEIGHT for GESTATIONAL AGE.