Valproate-induced hyperammonemic coma in females with unrecognized partial ornithine transcarbamylase deficiency

Abstract

A female child with undiagnosed partial ornithine transcarbamylase deficiency suffered hyperammonemic coma after initiation of valproate for suspected seizures. Retrospec tive history and metabolic testing indicated ornithine tra nscarbamylase deficiency. This case, along with previous reports in childr en and adults, demonstrates the importance of a focused history and consideration of appropriate metabolic testing prior to im plementation of valproate therapy especially in female patients.