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

Disease definition

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.

ORPHA:71212

  • 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: -

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