Citrullinemia Type 1: A Rare Case

Abstract

Here we presented a case of Citrullinemia type 1 in a full term male neonate who presented with an acute catastrophic collapse on the 3rd day of life. The key features of increasingly poor feeding, vomiting and progressive lethargy with or without seizures should quickly direct towards a metabolic origin. This case report also shows the importance of early biochemical and metabolic screening in newborns, to reach an early and definitive diagnosis of IEM and proper management of such cases. .