Whole-exome sequencing reveals the molecular diagnoses of pediatric patients presenting with hyperammonemia

Background

Hyperammonemia (HA) is a life-threatening metabolic emergency with diverse genetic etiologies. While classical causes include the urea-cycle and organic acid disorders, the complete mutational spectrum remains incompletely defined. This study aimed to identify the underlying molecular diagnoses in pediatric patients presenting with hyperammonemia as a prominent metabolic manifestation, using whole-exome sequencing (WES).