Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report

  • Authors:
    • Jun Xu
    • Aimin Zhang
    • Furong Huang
  • View Affiliations

  • Published online on: May 6, 2020     https://doi.org/10.3892/etm.2020.8717
  • Pages: 623-629
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Abstract

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.

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July 2020
Volume 20 Issue 1

Print ISSN: 1792-0981
Online ISSN:1792-1015

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APA
Xu, J., Zhang, A., & Huang, F. (2020). Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report. Experimental and Therapeutic Medicine, 20, 623-629. https://doi.org/10.3892/etm.2020.8717
MLA
Xu, J., Zhang, A., Huang, F."Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report". Experimental and Therapeutic Medicine 20.1 (2020): 623-629.
Chicago
Xu, J., Zhang, A., Huang, F."Biallelic mutations in carbamoyl phosphate synthetase 1 induced hyperammonemia in a neonate: A case report". Experimental and Therapeutic Medicine 20, no. 1 (2020): 623-629. https://doi.org/10.3892/etm.2020.8717