A Deep Intronic HADH Splicing Mutation (c.636+471G > T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.7, no.2, pp.144-147, 2015 (SCI-Expanded, Scopus, TRDizin)
- 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
- Inonu University Affiliated: No
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.