Congenital Hyperinsulinism

**Definition:** A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).

**Tree numbers:** - C06.689.150 - C16.614.200 - C18.452.394.968.250 - C18.452.394.984.200

**Synonyms:** - Familial Hyperinsulinism - Hyperinsulinemia Hypoglycemia of Infancy - Hyperinsulinemic Hypoglycemia, Persistent - Hyperinsulinism, Congenital - Hyperinsulinism, Familial - Hyperinsulinism, Neonatal - Hypoglycemia, Hyperinsulinemic, of Infancy - Infancy Hyperinsulinemia Hypoglycemia - Neonatal Hyperinsulinism - Persistent Hyperinsulinemia Hypoglycemia of Infancy - Persistent Hyperinsulinemic Hypoglycemia - PHHI Hypoglycemia