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
Emine ÇamtosunMerih Berberoğlu

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.

Citations

Aug 16, 2019·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Elizabeth RosenfeldDiva D De Leon
May 12, 2018·Current Opinion in Pediatrics·Mary Ellen Vajravelu, Diva D De León

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