Engelsk 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).
Svenska synonymer
Familjär hyperinsulinemisk hypoglykemi 2 — Familjär hyperinsulinemisk hypoglykemi 1 — Neonatal hyperinsulinism
Engelska synonymer
Congenital Hyperinsulinisms — Hyperinsulinisms, Congenital — Hyperinsulinemia Hypoglycemia of Infancy — Infancy Hyperinsulinemia Hypoglycemias — Hyperinsulinemic Hypoglycemia, Persistent — Hyperinsulinemic Hypoglycemias, Persistent — Hypoglycemia, Persistent Hyperinsulinemic — Hypoglycemias, Persistent Hyperinsulinemic — Persistent Hyperinsulinemic Hypoglycemias — Hyperinsulinism, Congenital — Hyperinsulinism, Familial — Familial Hyperinsulinisms — Hyperinsulinisms, Familial — PHHI Hypoglycemia — Hypoglycemia, PHHI — Hypoglycemias, PHHI — PHHI Hypoglycemias — Hypoglycemia, Hyperinsulinemic, of Infancy — Infancy Hyperinsulinemia Hypoglycemia — Neonatal Hyperinsulinism — Persistent Hyperinsulinemia Hypoglycemia of Infancy — Persistent Hyperinsulinemic Hypoglycemia — Familial Hyperinsulinism — Hyperinsulinism, Neonatal — Hyperinsulinisms, Neonatal — Neonatal Hyperinsulinisms — Hyperinsulinemic Hypoglycemia, Familial, 2 — Familial Hyperinsulinemic Hypoglycemia 1 — Hyperinsulinemic Hypoglycemia, Familial, 1 — Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia