The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.

Abstract excerpt

During Jan. 2016-Dec. 2019, nine Chinese patients from eight unrelated families were diagnosed with neonatal-onset UCDs by targeted panel sequencing or whole-exome sequencing (WES). Their clinical manifestations, biochemical features, 180-day-age outcomes, and molecular genetic characteristics were reviewed retrospectively. NGS-based tests revealed 7 patients diagnosed with ornithine transcarbamylase deficiency...

Topics

• Age of Onset
• Carbamoyl-Phosphate Synthase (Ammonia)
• China
• Female
• High-Throughput Nucleotide Sequencing
• Humans
• Hyperammonemia
• Infant, Newborn
• Male
• Metabolomics
• Mutation
• Ornithine Carbamoyltransferase
• Ornithine Carbamoyltransferase Deficiency Disease