Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing

摘要

Carbamoyl Phosphate Synthetase 1 deficiency ( 1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of 1D and its similar symptoms with other urea cycle disorders ( s) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene . Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of 1D in Chinese population.