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Related terms:
asphyxia neonatorum
birth injury
cystic fibrosis
erythroblastosis fetalis
buphthalmos
hyperinsulinism
hypoglycemia
ichthyosis
neonatal disorder
Disease or Syndrome
congenital hyperinsulinism
Subclass of:
Pancreatic Diseases; Neonatal disorder; Hyperinsulinism; Hypoglycemia
Definitions related to congenital hyperinsulinism:
  • 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).
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2025
  • An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children.
    NCI
    U.S. National Cancer Institute, 2021
  • Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) represents the most common cause of hyperinsulinism in neonates; currently, many authors prefer the term congenital hyperinsulinism (CHI). It was first identified in 1938, when Laidlaw coined the term nesidioblastosis to describe the neodifferentiation of islets of Langerhans...
    Medscape
    WebMD, 2025
  • Congenital hyperinsulinism is a disease where there are abnormally high levels of insulin, a hormone produced by the beta cells of the pancrea s that helps control blood sugar levels. Because of the high levels of insulin, people with this disease have frequent episodes of low blood sugar (hypoglycemia) that can even occur after eating....
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.

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