TY - JOUR AB - The aim of the present report was to describe the clinical presentation, diagnosis, and treatment of a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a neonate, specifically, a 3 day‑old female who visited Hunan Provincial People's Hospital due to anorexia and lethargy for 1 day. Physical and laboratory examination, and MRI were undertaken. Whole exome sequencing (WES) was applied for molecular etiology identification. Sanger sequencing was utilized to validate the variants detected by WES. Structural modeling was conducted for pathogenic analysis. Clinical examination revealed increased intracranial pressure, hyperammonemia, reduced citrulline, and increased glutamic acid levels. WES identified compound heterozygosity of c.713G>C, p.Arg238Pro and c.2339G>A, p.Arg780His in CPS1 (NCBI reference sequence, NM_001875.4) as candidate pathogenic variants. Sanger sequencing validated these variants. Structural modeling further confirmed the pathogenesis of these mutations. In conclusion, CPS1 deficiency in neonates is a serious condition that may be misdiagnosed due to severe infection. WES can be a helpful tool in facilitating the diagnosis of this disease. AD - Department of Neonatology, Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China AU - Xu,Jun AU - Zhang,Aimin AU - Huang,Furong DA - 2020/07/01 DO - 10.3892/etm.2020.8717 EP - 629 IS - 1 JO - Exp Ther Med KW - carbamoyl phosphate synthetase 1 hyperammonemia urea cycle disorders PY - 2020 SN - 1792-0981 1792-1015 SP - 623 ST - Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report T2 - Experimental and Therapeutic Medicine TI - Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report UR - https://doi.org/10.3892/etm.2020.8717 VL - 20 ER -