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 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. © journal of clinical research in pediatric endocrinology,published by galenos publishing.