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.
📌 3 Key Takeaways
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Objective & Hypothesis:Unlike other congenital fatty acid oxidation defects, short-chain L-3hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterised by hypoglycemia with hyperinsulinism in the neonatal or infancy periods.
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Key Findings & Data: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.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
Unlike other congenital fatty acid oxidation defects, short-chain L-3hydroxyacyl-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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Cite This Article
ÇAMTOSUN, E., FLANAGAN, S. E., ELLARD, S., ŞIKLAR, Z., HUSSAIN, K., KOCAAY, P., BERBEROĞLU, M. (2015). 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, Cilt: 7 - Sayı: 2, 144–147. https://ajindex.com/articles/219775
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