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

Camtosun E., Flanagan S. E., Ellard S., ŞIKLAR Z., Hussain K., Kocaay P., ...More

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.7, no.2, pp.144-147, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 7 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.4274/jcrpe.1963
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.144-147
  • Keywords: HADH mutation, hyperinsulinemic hypoglycemia, children, DEHYDROGENASE-DEFICIENCY, 3-HYDROXYACYL-COENZYME, IDENTIFICATION, REVEALS
  • Ankara University Affiliated: Yes

Abstract

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.