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Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Disease definition

A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure.


Classification level: Disorder
  • Synonym(s):
    • Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • Hyperinsulinism due to SCHAD deficiency
    • Hyperinsulinism due to glutamodehydrogenase deficiency
    • SCHAD deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E71.3
  • OMIM: 231530  609975
  • UMLS: C1291230
  • MeSH: -
  • GARD: 2819  9870
  • MedDRA: -

Detailed information


Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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