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J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. doi: 10.4274/jcrpe.1963.

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

Author information

1
Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 595 66 35 E-mail: zeynepsklr@gmail.com.

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.

PMID:
26316438
PMCID:
PMC4563187
DOI:
10.4274/jcrpe.1963
[Indexed for MEDLINE]
Free PMC Article

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