A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course | Zendy

Emine Çamtosun | Zendy; Sarah E. Flanagan | Zendy; Sian Ellard | Zendy; Zeynep Şıklar | Zendy; Khalid Hussain | Zendy; Pınar Kocaay | Zendy; Merih Berberoğlu | Zendy

Open Access

A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course

Author(s) -

Emine Çamtosun,

Sarah E. Flanagan,

Sian Ellard,

Zeynep Şıklar,

Khalid Hussain,

Pınar Kocaay,

Merih Berberoğlu

Publication year - 2015

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.1963

Subject(s) - medicine , hyperinsulinemic hypoglycemia , hypoglycemia , hyperinsulinism , mutation , congenital hyperinsulinism , hyperinsulinemia , endocrinology , pediatrics , rna splicing , genetics , gene , insulin , insulin resistance , biology , rna

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.

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