Last update 01 Nov 2024

Congenital Hyperinsulinism

Basic Info

Synonyms
Congenital Hyperinsulinemic Hypoglycemia, Congenital Hyperinsulinism, Congenital Hyperinsulinisms
+ [68]
Introduction
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).

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