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., Siklar Z., Hussain K., Kocaay P., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.7, ss.144-147, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 7 Konu: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.4274/jcrpe.1963
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayıları: ss.144-147

Özet

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.