hrp0089lb-p17 | Late Breaking P1 | ESPE2018

Protein-Induced Hypoglycemia Secondary to Hyperinsulinism-Hyperammonemia (HI/HA) Syndrome: A GLUD1 Gene Mutation

D'Ambrosio Fabiola , Buchanan Ashley , Chan Jacquelin , Mantis Stelios

Introduction: Hyperinsulinism–Hyperammonemia (HI/HA) syndrome is a rare autosomal disease characterized by episodes of hypoglycemia related to consumption of high-protein containing foods or fasting with associated hyperammonemia secondary to an activating mutation in the GLUD1 gene. It often remains unrecognized until later in childhood because symptomatic episodes can be misinterpreted as epilepsy if patterns of hypoglycemia with fasting and protein-rich meals are not i...