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

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 pa...

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Autores principales: Çamtosun, Emine, Flanagan, Sarah E., Ellard, Sian, Şıklar, Zeynep, Hussain, Khalid, Kocaay, Pınar, Berberoğlu, Merih
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563187/
https://www.ncbi.nlm.nih.gov/pubmed/26316438
http://dx.doi.org/10.4274/jcrpe.1963
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author Çamtosun, Emine
Flanagan, Sarah E.
Ellard, Sian
Şıklar, Zeynep
Hussain, Khalid
Kocaay, Pınar
Berberoğlu, Merih
author_facet Çamtosun, Emine
Flanagan, Sarah E.
Ellard, Sian
Şıklar, Zeynep
Hussain, Khalid
Kocaay, Pınar
Berberoğlu, Merih
author_sort Çamtosun, Emine
collection PubMed
description 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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spelling pubmed-45631872016-01-12 A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course Çamtosun, Emine Flanagan, Sarah E. Ellard, Sian Şıklar, Zeynep Hussain, Khalid Kocaay, Pınar Berberoğlu, Merih J Clin Res Pediatr Endocrinol Case Report 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. Galenos Publishing 2015-06 2015-06-03 /pmc/articles/PMC4563187/ /pubmed/26316438 http://dx.doi.org/10.4274/jcrpe.1963 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Çamtosun, Emine
Flanagan, Sarah E.
Ellard, Sian
Şıklar, Zeynep
Hussain, Khalid
Kocaay, Pınar
Berberoğlu, Merih
A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
title A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
title_full A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
title_fullStr A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
title_full_unstemmed A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
title_short A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course
title_sort deep intronic hadh splicing mutation (c.636+471g>t) in a congenital hyperinsulinemic hypoglycemia case: long term clinical course
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4563187/
https://www.ncbi.nlm.nih.gov/pubmed/26316438
http://dx.doi.org/10.4274/jcrpe.1963
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