Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series

GLUD1-related hyperinsulinism-hyperammonemia syndrome presents with a wide clinical spectrum, often with early onset and risk of neurological impairment if not promptly treated. Early diagnosis and individualized management-including genetic testing and diazoxide therapy-are essential to prevent irreversible complications. Further multicenter studies are warranted to better understand long-term outcomes in affected populations.