title: A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
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.
authors: Emine
authors: E
authors: Çamtosun
authors: Sarah E
authors: SE
authors: Flanagan
authors: Sian
authors: S
authors: Ellard
authors: Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey Phone: +90 312 595 66 35 E-mail: zeynepsklr@gmail.com.
authors: Zeynep
authors: Z
authors: Şıklar
authors: Khalid
authors: K
authors: Hussain
authors: Pınar
authors: P
authors: Kocaay
authors: Merih
authors: M
authors: Berberoğlu
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D018450:Disease Progression; D004569:Electroencephalography; D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000150:complications / Q000151:congenital / Q000235:genetics*; D007003:Hypoglycemia / Q000151:congenital / Q000209:etiology / Q000235:genetics*; D007231:Infant, Newborn; D007438:Introns; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D010375:Pedigree; D019154:Protein Splicing
chemical_list: D015094:3-Hydroxyacyl CoA Dehydrogenases