Congenital Hyperinsulinism
MESHD044903
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).
Synonyms
- Congenital Hyperinsulinisms
- Hyperinsulinisms, Congenital
- Familial Hyperinsulinism
- 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
- Hyperinsulinism, Neonatal
- Hyperinsulinisms, Neonatal
- Neonatal Hyperinsulinisms
- Hypoglycemia, Hyperinsulinemic, of Infancy
- Infancy Hyperinsulinemia Hypoglycemia
- Neonatal Hyperinsulinism
- Persistent Hyperinsulinemia Hypoglycemia of Infancy
- Persistent Hyperinsulinemic Hypoglycemia
- PHHI Hypoglycemia
- Hypoglycemia, PHHI
- Hypoglycemias, PHHI
- PHHI Hypoglycemias
- Hyperinsulinemic Hypoglycemia, Familial, 2
- Familial Hyperinsulinemic Hypoglycemia 1
- Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia
- Hyperinsulinemic Hypoglycemia, Familial, 1
Source last updated 2026-05-24T15:25:08.068Z