Discover genetics and evolution
Whole-exome sequencing reveals the molecular diagnoses of pediatric patients presenting with hyperammonemia
By Hajati R, Kamfar S, Reshadmanesh A and 6 others.
Abstract
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).
Methods
Five pediatric patients with hyperammonemia were retrospectively analyzed using WES followed by Sanger sequencing. Variants were classified according to the ACMG guidelines, and clinical data were reviewed to establish genotype-phenotype correlations.