Molecular, biochemical, and clinical analyses of five patients with carbamoyl phosphate synthetase 1 deficiency.

ABSTRACT:

Background

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare urea cycle disorder. The aim of this study was to present the clinical findings, management, biochemical data, molecular genetic analysis, and short-term prognosis of five children with CPS1D.

Methods

The information of five CPS1D patients was retrospectively studied. We used targeted next-generation sequencing to identify carbamoyl phosphate synthetase 1 (CPS1) variants in patients suspected to have CPS1D. Candidate mutations were validated by Sanger sequencing. In silico and structure analyses were processed for the pathogenicity predictions of the identified mutations.

Results

The patients had typically clinical manifestations and biochemical data of CPS1D. Genetic analysis revealed nine mutat

SUBMITTER: Fan L 

PROVIDER: S-EPMC7171324 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature