A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
Author
Çamtosun, E.
Flanagan, Sarah
Ellard, Sian
Şıklar, Z.
Hussain, K.
Kocaay, P.
Berberoğlu, M.
Date
2015-06Journal
Journal of clinical research in pediatric endocrinologyType
Journal ArticleCase Report
Research Support, Non-U.S. Gov't
Publisher
GalenosDOI
10.4274/jcrpe.1963Rights
Archived with thanks to Journal of clinical research in pediatric endocrinologyMetadata
Show full item recordAbstract
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.