A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. doi: 10.4274/jcrpe.1963.


Unlike other congenital fatty acid oxidation defects, short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods. The long-term and detailed clinical progression of the disease is largely unknown with almost 40 patients reported and only a few patients described clinically. We present clinical and laboratory findings together with the long-term clinical course of a case with a deep intronic HADH splicing mutation (c.636+471G>T) causing neonatal-onset hyperinsulinemic hypoglycemia with mild progression.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • 3-Hydroxyacyl CoA Dehydrogenases / genetics
  • Adolescent
  • Disease Progression
  • Electroencephalography
  • Female
  • Humans
  • Hyperinsulinism / complications
  • Hyperinsulinism / congenital
  • Hyperinsulinism / genetics*
  • Hypoglycemia / congenital
  • Hypoglycemia / etiology
  • Hypoglycemia / genetics*
  • Infant, Newborn
  • Introns
  • Metabolism, Inborn Errors / genetics*
  • Pedigree
  • Protein Splicing


  • 3-Hydroxyacyl CoA Dehydrogenases

Supplementary concepts

  • 3-Hydroxyacyl-CoA Dehydrogenase Deficiency