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
© Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
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.
The genetic studies were funded by the Medical Research Council (Grant Number 98144). SF has a Sir Henry Dale Fellowship jointly funded by the Wellcome Trust and the Royal Society (Grant Number 105636/Z/14/Z).
Research Support, Non-U.S. Gov't
Vol. 7, No. 2, pp. 144-147
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